An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.8.
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46.
An intermediate in the biosynthesis of cerebrosides. It is formed by reaction of sphingosine with UDP-galactose and then itself reacts with fatty acid-Coenzyme A to form the cerebroside.
Inherited conditions characterized by a loss of MYELIN in the central nervous system.
GLYCOSPHINGOLIPIDS with a sulfate group esterified to one of the sugar groups.
A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)
A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)
Neutral glycosphingolipids that contain a monosaccharide, normally glucose or galactose, in 1-ortho-beta-glycosidic linkage with the primary alcohol of an N-acyl sphingoid (ceramide). In plants the monosaccharide is normally glucose and the sphingoid usually phytosphingosine. In animals, the monosaccharide is usually galactose, though this may vary with the tissue and the sphingoid is usually sphingosine or dihydrosphingosine. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1st ed)
A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.
Sulfatases are a group of enzymes that catalyze the hydrolysis of sulfate ester bonds in various substrates, playing crucial roles in the metabolism and homeostasis of carbohydrates, proteoglycans, neurotransmitters, and steroid hormones within the body.
A family of glycoprotein cofactors that are required for the efficient catabolization of SPHINGOLIPIDS by specific acid hydrolases such as GLUCOSYLCERAMIDASE; GALACTOCEREBROSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; and CEREBROSIDE-SULFATASE.
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
An enzyme that catalyzes the conversion of UDP-galactose and N-acylsphingosine to D-galactosylceramide and UDP.
Any of various diseases affecting the white matter of the central nervous system.
Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1.
Mice which carry mutant genes for neurologic defects or abnormalities.
Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A myelin protein that is the major component of the organic solvent extractable lipoprotein complexes of whole brain. It has been the subject of much study because of its unusual physical properties. It remains soluble in chloroform even after essentially all of its bound lipids have been removed. (From Siegel et al., Basic Neurochemistry, 4th ed, p122)
A performance test based on forced MOTOR ACTIVITY on a rotating rod, usually by a rodent. Parameters include the riding time (seconds) or endurance. Test is used to evaluate balance and coordination of the subjects, particular in experimental animal models for neurological disorders and drug effects.
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-.
A subclass of ubiquitously-expressed lamins having an acidic isoelectric point. They are found to remain bound to nuclear membranes during mitosis.
Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.
The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.
The magnitude of INBREEDING in humans.
Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
Identification of genetic carriers for a given trait.
A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as SATELLITE CELLS, PERINEURONAL of GANGLIA) according to their location. They form the insulating MYELIN SHEATH of axons in the central nervous system.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Cerebrosides which contain as their polar head group a galactose moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in beta-galactosidase, is the cause of galactosylceramide lipidosis or globoid cell leukodystrophy.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)

An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. (1/118)

Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases. Four of them, called saposins, are encoded by the prosaposin gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D). One of these, saposin B, is necessary in the hydrolysis of sulphatide by arylsulphatase A where it presents the solubilised substrate to the enzyme. As an alternative to arylsulphatase A deficiency, deficiency of saposin B causes metachromatic leukodystrophy. We identified a previously undescribed mutation (N215K) in the prosaposin gene of a patient with metachromatic leukodystrophy but with normal arylsulphatase A activity and elevated sulphatide in urine. The mutation involves a highly conserved amino acidic residue and abolishes the only N-glycosylation site of saposin B.  (+info)

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals. (2/118)

Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<--G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual frequency of the N350S mutation was 20.7% (71 of 342 alleles) and 7.9% (27 of 342 alleles) for the 1524+95A<--G mutation. The frequency of the ASA-PD allele in our population was estimated to be 7.9%. This is the first report of ASA-PD allele frequency in a South American population. In addition, the methods used are effective and suitable for application in countries with limited resources. All patients with low ASA activity should be screened for ASA-PD as part of the diagnostic protocol for metachromatic leukodystrophy.  (+info)

Spontaneous rupture of the diaphragm. (3/118)

A 2.5 year old girl with metachromatic leukodystrophy presented with acute respiratory distress and was initially wrongly diagnosed with pneumothorax. Barium meal showed bowel loops in the left hemithorax, which prompted surgical intervention; spontaneous rupture of the diaphragm was diagnosed at surgery.  (+info)

Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells. (4/118)

A deficiency of arylsulfatase A (ASA) causes the lysosomal storage disease metachromatic leukodystrophy (MLD) which is characterized primarily by demyelination of the central nervous system. ASA-deficient mice develop a disease which resembles MLD in many respects and thus serve as an appropriate animal model for this disease. To establish gene therapy protocols for ASA-deficient mice, we constructed two retroviral vectors based on the murine stem cell virus. Both vectors harbor the human ASA cDNA controlled by the retroviral promoter/enhancer element, but differ by the presence or absence of a neomycin resistance gene driven by an internal promoter. A comparative analysis of the one- versus the two-gene vector and an amphotropic versus an ecotropic producer cell line revealed that the amphotropic producer cell line for the one-gene vector transfers ASA overexpression to the target cells most efficiently. The human ASA encoded by this vector is correctly expressed in heterologous mouse cells and corrects the metabolic defect of transduced ASA-deficient murine cells. The constructed one-gene vector might thus be a potentially useful tool for the development of a gene-based therapy for ASA-deficient mice. Gene Therapy (2000) 7, 805-812.  (+info)

Concepts of myelin and myelination in neuroradiology. (5/118)

Until the advent of MR imaging, knowledge of the structure of myelin and the process of myelination were of little importance to the neuroradiologist. Other than some mild changes in the attenuation of white matter, myelination resulted in no significant alterations of CT (1) or sonographic studies. MR studies, on the other hand, have been increasingly used for pediatric brain imaging. MR imaging's greater sensitivity to small changes in the water content of brain tissue, to changes in the binding of free water (revealed by magnetization transfer), and to the extent and anisotropy of water diffusion (revealed by diffusion imaging) has cast new light on this very complex and important molecule. Assessing myelination has become a key component of evaluating the child with delayed development. Moreover, better understanding of the nature of myelin and the effect of its different components on MR imaging parameters may help us to understand and diagnose inborn errors of metabolism better. In this review, I discuss what is known regarding the function and structure of CNS myelin and the effects of the various components of myelin on the signal imparted to the MR image. Summary Abnormalities of myelin can cause a wide variety of disorders of the nervous system. MR imaging is a powerful tool for the study of myelin and its disorders. However, only by understanding the physiologic properties and structure of myelin can we use MR imaging to its fullest capacity for studying patients with myelin disorders. In this review, I have discussed the structure of myelin as it relates to MR imaging of normal myelination and to neurologic disorders resulting from abnormalities of myelin. Thinking of myelin and its disorders in this manner will be critical to using MR imaging techniques optimally to diagnose and study these disorders further.  (+info)

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. (6/118)

We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (TYR) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the TYR gene on one chromosome and a (TG) deletion at codon 244/245 on the second chromosome. The existence of the microdeletion suggested that a gene responsible for leucodystrophy was located in the vicinity of the TYR gene. A combination of a test of hemizygosity and contig mapping studies allowed us to map the gene within a 0.6 cM region flanked by microsatellite markers D11S1780 and D11S931.  (+info)

Above-normal urinary excretion of urinary ceramides in Farber's disease, and characterization of their components by high-performance liquid chromatography. (7/118)

We compared the sphingolipid content of urine from a patient with Farber's disease with that of control urine. The ceramides were measured by high-performance liquid chromatography. The patient's urine contained 1.2 mug of ceramides per milligram of creatinine, more than 200-fold the normal amount. The urinary ceramides were isolated by high-performance liquid chromatography for further identification. They contained mainly nonhydroxy fatty acids and only a small quantity of those with 2-hydroxy fatty acids. This contrasts with the previously described composition of the patient's renal and cerebellar tissue. The fatty acid and long-chain base compositions of the urinary ceramides containing nonhydroxy fatty acids were nearly identical to those of the patient's kidney.  (+info)

Childhood organic neurological disease presenting as psychiatric disorder. (8/118)

Over a period of one year 12 children with complaints which had been diagnosed as due to a psychiatric disorder presented to a paediatric neurological unit where neurological disease was diagnosed. The group was characterized by behavioural symptoms such as deteriorating school performance, visual loss, and postural disturbance, which are unusual in children attending child psychiatric departments. It is suggested that where there is diagnostic uncertainty the presence of these physical symptoms calls for periodic neurological reassessment, and attention is drawn to the rare but serious disorders which may thus be diagnosed. Making an organic diagnosis, however, should not preclude psychosocial management of emotional reactions in these families.  (+info)

Metachromatic leukodystrophy (MLD) is a genetic disorder that affects the nervous system's white matter. It is caused by mutations in the arylsulfatase A (ARSA) gene, which leads to an accumulation of sulfatides in the brain and peripheral nerves. This accumulation results in progressive damage to the protective sheath (myelin) that covers nerve fibers, impairing the transmission of nerve impulses and leading to neurological symptoms.

The clinical presentation of MLD varies depending on the age of onset. The late-infantile form is the most common and typically appears between ages 1 and 2. Symptoms include developmental regression, motor difficulties, muscle weakness, and loss of vision and hearing. The juvenile form usually begins between ages 4 and 6, while the adult form can manifest anytime after age 16. These later-onset forms tend to have a slower progression but still result in significant neurological impairment over time.

Currently, there is no cure for MLD, and treatment focuses on managing symptoms and slowing disease progression. Bone marrow transplantation or stem cell transplantation may be beneficial if performed early in the course of the disease.

Globoid cell leukodystrophy, also known as Krabbe disease, is a rare inherited disorder that affects the nervous system. It is characterized by the accumulation of abnormal quantities of a protein called psychosine in the brain's nerve cells, leading to their destruction and progressive damage to the protective sheath (myelin) that covers the nerves.

The term "leukodystrophy" refers to a group of disorders that affect the white matter of the brain, which is primarily composed of myelin. In globoid cell leukodystrophy, the accumulation of psychosine in the brain's nerve cells, particularly in macrophages (which are then referred to as "globoid cells"), results in progressive demyelination and severe neurological symptoms.

Early-onset forms of Krabbe disease typically present within the first six months of life, with symptoms such as irritability, feeding difficulties, muscle weakness, and developmental delays. Late-onset forms may not become apparent until later in childhood or even adulthood, with symptoms that can include vision loss, hearing impairment, muscle stiffness, and difficulty coordinating movements. The progression of the disease is often rapid, leading to severe disability and a shortened lifespan.

There is currently no cure for globoid cell leukodystrophy, but various treatments, such as bone marrow transplantation and enzyme replacement therapy, are being investigated to help manage the symptoms and slow down the progression of the disease.

Cerebroside-sulfatase is an enzyme that plays a crucial role in the breakdown and recycling of lipids within the body, particularly in the brain. Its primary function is to break down a type of lipid called cerebroside sulfate, which is a major component of the myelin sheath that surrounds and insulates nerve fibers in the brain and nervous system.

Cerebroside-sulfatase deficiency can lead to a group of genetic disorders known as the mucopolysaccharidoses (MPS), specifically MPS IIIB or Sanfilippo syndrome B. In this condition, the lack of cerebroside-sulfatase activity leads to an accumulation of cerebroside sulfate in the lysosomes of cells, resulting in progressive neurological deterioration and developmental delays.

Galactosylceramidase (galactocerebrosidase) is an enzyme that breaks down a fatty substance called galactosylceramide, which is found in myelin – the protective covering of nerve fibers in the brain. This enzyme plays a crucial role in the maintenance and functioning of the nervous system.

Deficiency of galactosylceramidase leads to the accumulation of galactosylceramide in the lysosomes (membrane-bound organelles responsible for breaking down waste materials within cells), resulting in an inherited metabolic disorder known as Krabbe disease or globoid cell leukodystrophy. This rare and progressive neurological condition affects the development and maintenance of myelin, causing severe damage to the nervous system and leading to motor, cognitive, and sensory impairments, ultimately resulting in early death if left untreated.

I'm sorry for any confusion, but "psychosine" is not a commonly used term in medicine or psychology. It is a lipid molecule that has been researched in the context of certain neurological conditions, particularly Krabbe disease, which is a rare and fatal genetic disorder affecting the nervous system.

In Krabbe disease, psychosine accumulates in the body due to a deficiency of an enzyme called galactocerebrosidase. This buildup of psychosine is thought to contribute to the damage and destruction of nerve cells, leading to the symptoms of the disease. However, it's important to note that this is still an area of ongoing research, and there is no medical definition for "psychosine" in a general sense.

Hereditary Central Nervous System (CNS) Demyelinating Diseases are a group of rare, inherited genetic disorders that affect the nervous system. These diseases are characterized by damage to the myelin sheath, which is the protective covering surrounding nerve fibers in the CNS (brain and spinal cord). The damage to the myelin sheath results in disrupted communication between the brain and other parts of the body, leading to various neurological symptoms.

Examples of Hereditary CNS Demyelinating Diseases include:

1. Leukodystrophies - A group of genetic disorders that affect the white matter (myelin) in the brain. Examples include Pelizaeus-Merzbacher disease, Krabbe disease, and Metachromatic leukodystrophy.
2. Hereditary Spastic Paraplegias (HSPs) - A group of inherited disorders that cause progressive stiffness and weakness in the legs due to damage to the nerve fibers in the spinal cord. Some forms of HSP can also involve CNS demyelination.
3. Neurodegenerative disorders with brain iron accumulation (NBIA) - A group of rare genetic disorders characterized by abnormal accumulation of iron in the brain, which can lead to damage to the myelin sheath and other structures in the brain. Examples include Pantothenate kinase-associated neurodegeneration (PKAN) and Neuroferritinopathy.
4. Cerebrotendinous xanthomatosis - A rare inherited disorder of bile acid metabolism that can lead to progressive neurological symptoms, including demyelination in the brain and spinal cord.

These disorders are typically diagnosed through genetic testing, medical history, physical examination, and imaging studies such as MRI. Treatment is focused on managing symptoms and slowing disease progression, and may include medications, physical therapy, and other supportive care measures.

Sulfoglycosphingolipids are a type of glycosphingolipid that contain a sulfate ester group in their carbohydrate moiety. They are important components of animal cell membranes and play a role in various biological processes, including cell recognition, signal transduction, and cell adhesion.

The most well-known sulfoglycosphingolipids are the sulfatides, which contain a 3'-sulfate ester on the galactose residue of the glycosphingolipid GalCer (galactosylceramide). Sulfatides are abundant in the nervous system and have been implicated in various neurological disorders.

Other sulfoglycosphingolipids include the seminolipids, which contain a 3'-sulfate ester on the galactose residue of lactosylceramide (Galβ1-4Glcβ1-Cer), and are found in high concentrations in the testis.

Abnormalities in sulfoglycosphingolipid metabolism have been associated with several genetic disorders, such as metachromatic leukodystrophy (MLD) and globoid cell leukodystrophy (GLD), which are characterized by progressive neurological deterioration.

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive genetic disorder affecting the nervous system. It is caused by mutations in the PLP1 gene, which provides instructions for making proteins that are important for the formation and maintenance of the myelin sheath, the protective covering that wraps around nerve cell fibers (axons) in the brain and spinal cord to ensure efficient transmission of electrical signals.

In individuals with PMD, the myelin sheath is either partially or completely absent, leading to progressive neurological symptoms. The classic form of PMD is characterized by early onset of nystagmus (involuntary eye movements), ataxia (loss of muscle coordination and balance), and intellectual disability. Other features may include hypotonia (low muscle tone), spasticity (stiff or rigid muscles), and seizures. The severity and progression of the disease can vary widely among affected individuals, ranging from a severe, lethal form to a milder form with a slower disease course.

Currently, there is no cure for PMD, and treatment is focused on managing symptoms and improving quality of life.

Diffuse cerebral sclerosis of Schilder, also known as Schilder's disease, is a rare inflammatory demyelinating disorder of the central nervous system. It primarily affects children and young adults, but can occur at any age. The condition is characterized by widespread destruction of the myelin sheath, which surrounds and protects nerve fibers in the brain.

The hallmark feature of Schilder's disease is the presence of multiple, large, symmetrical lesions in the white matter of both cerebral hemispheres. These lesions are typically located in the parieto-occipital regions of the brain and can extend to involve other areas as well.

The symptoms of Schilder's disease vary depending on the location and extent of the lesions, but may include:

* Progressive intellectual decline
* Seizures
* Visual disturbances
* Weakness or paralysis on one side of the body (hemiparesis)
* Loss of sensation in various parts of the body
* Speech difficulties
* Behavioral changes, such as irritability, mood swings, and depression

The exact cause of Schilder's disease is not known, but it is believed to be an autoimmune disorder, in which the body's own immune system mistakenly attacks the myelin sheath. There is no cure for Schilder's disease, and treatment typically involves corticosteroids or other immunosuppressive therapies to reduce inflammation and slow the progression of the disease. Despite treatment, many patients with Schilder's disease experience significant disability and may require long-term care.

Cerebrosides are a type of sphingolipid, which are lipids that contain sphingosine. They are major components of the outer layer of cell membranes and are particularly abundant in the nervous system. Cerebrosides are composed of a ceramide molecule (a fatty acid attached to sphingosine) and a sugar molecule, usually either glucose or galactose.

Glycosphingolipids that contain a ceramide with a single sugar residue are called cerebrosides. Those that contain more complex oligosaccharide chains are called gangliosides. Cerebrosides play important roles in cell recognition, signal transduction, and cell adhesion.

Abnormalities in the metabolism of cerebrosides can lead to various genetic disorders, such as Gaucher's disease, Krabbe disease, and Fabry disease. These conditions are characterized by the accumulation of cerebrosides or their breakdown products in various tissues, leading to progressive damage and dysfunction.

Saposins are a group of naturally occurring lipid-binding proteins that play an essential role in the metabolism of lipids within cells. They are named after a skin disease called "Niemann-Pick disease," where defects in saposin function lead to an accumulation of lipids in various tissues, including the brain.

There are four types of saposins (SapA, SapB, SapC, and SapD) that are produced by the cleavage of a larger precursor protein called prosaposin. These proteins help to facilitate the breakdown of lipids in lysosomes, which are specialized organelles within cells that break down and recycle various materials.

Saposins play an important role in activating certain enzymes that are involved in breaking down lipids, such as sphingolipids and gangliosides. They do this by binding to these enzymes and presenting them with their lipid substrates in a way that allows the enzymes to efficiently break them down.

Defects in saposin function can lead to a variety of diseases, including Niemann-Pick disease, Gaucher disease, and Krabbe disease, which are characterized by an accumulation of lipids in various tissues and neurological symptoms.

Sulfatases are a group of enzymes that play a crucial role in the metabolism of sulfated steroids, glycosaminoglycans (GAGs), and other sulfated molecules. These enzymes catalyze the hydrolysis of sulfate groups from these substrates, converting them into their respective unsulfated forms.

The human genome encodes for several different sulfatases, each with specificity towards particular types of sulfated substrates. For instance, some sulfatases are responsible for removing sulfate groups from steroid hormones and neurotransmitters, while others target GAGs like heparan sulfate, dermatan sulfate, and keratan sulfate.

Defects in sulfatase enzymes can lead to various genetic disorders, such as multiple sulfatase deficiency (MSD), X-linked ichthyosis, and mucopolysaccharidosis (MPS) type IIIC (Sanfilippo syndrome type C). These conditions are characterized by the accumulation of sulfated molecules in different tissues, resulting in progressive damage to multiple organs and systems.

Sphingolipid activator proteins (SAPs), also known as saposins, are a group of small proteins that play a crucial role in the metabolism of sphingolipids, a class of lipids found in cell membranes. These proteins are produced by the cleavage of a precursor protein called prosaposin.

SAPs facilitate the hydrolysis of sphingolipids by activating specific lysosomal hydrolases, enzymes that break down these lipids into simpler molecules. Each SAP has a unique structure and function, and they are named SapA, SapB, SapC, and SapD.

SapA and SapB activate the enzyme glucocerebrosidase, which breaks down glucosylceramide into glucose and ceramide. SapC activates the enzyme galactocerebrosidase, which breaks down galactosylceramide into galactose and ceramide. SapD has multiple functions, including activating the enzyme acid sphingomyelinase, which breaks down sphingomyelin into ceramide and phosphorylcholine.

Deficiencies in SAPs can lead to lysosomal storage disorders, such as Gaucher disease (caused by a deficiency in glucocerebrosidase) and Krabbe disease (caused by a deficiency in galactocerebrosidase). These disorders are characterized by the accumulation of undigested sphingolipids in various tissues, leading to cell dysfunction and tissue damage.

Sphingolipidoses are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids in various tissues and organs due to deficiencies in enzymes involved in sphingolipid metabolism. Sphingolipids are a type of lipid molecule that play important roles in cell membranes, signal transduction, and cell recognition.

Examples of sphingolipidoses include Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Krabbe disease, among others. These disorders can affect various organs and systems in the body, including the brain, liver, spleen, bones, and nervous system, leading to a range of symptoms such as developmental delay, seizures, movement disorders, enlarged organs, and skin abnormalities.

Treatment for sphingolipidoses typically involves managing symptoms and addressing complications, although some forms of these disorders may be amenable to enzyme replacement therapy or stem cell transplantation.

Canavan disease is a rare, inherited genetic disorder that affects the white matter (the nerve cells that transmit nerve impulses) in the brain. It is caused by mutations in the gene for an enzyme called aspartoacylase, which is responsible for breaking down a compound called N-acetylaspartic acid (NAA) in the brain. As a result of this genetic defect, NAA accumulates to toxic levels in the brain, leading to progressive damage to the white matter and resulting in a number of neurological symptoms.

Canavan disease is typically diagnosed in infancy or early childhood, and it affects both boys and girls. The symptoms of Canavan disease can vary widely, but they often include developmental delays, hypotonia (low muscle tone), difficulty with movements and balance, seizures, and optic atrophy (degeneration of the optic nerve). As the disease progresses, individuals with Canavan disease may lose previously acquired skills, such as the ability to sit, stand, or walk.

There is currently no cure for Canavan disease, and treatment is focused on managing the symptoms and supporting the individual's overall health and well-being. Physical therapy, occupational therapy, and speech therapy can help improve motor function and communication skills, while medications may be used to control seizures and other symptoms. In some cases, individuals with Canavan disease may require assistive devices, such as wheelchairs or communication aids, to help them navigate their environment and communicate with others.

N-Acylsphingosine Galactosyltransferase is a type of enzyme that plays a role in the synthesis of galactosylceramide, which is a critical component of the myelin sheath in the nervous system. The enzyme's systematic name is UDP-galactose:N-acylsphingosine galactosyltransferase, and it catalyzes the following chemical reaction:
UDP-galactose + N-acylsphingosine = UDP + D-galactosyl-N-acylsphingosine.
This enzyme is also known as galactosylceramide synthase, and it is involved in the biosynthesis of galactolipids, which are essential for the formation and maintenance of the myelin sheath around neurons. Deficiencies in this enzyme have been linked to certain genetic disorders, such as Krabbe disease and hereditary sensory and autonomic neuropathy type I.

Leukoencephalopathies are a group of medical conditions that primarily affect the white matter of the brain, which consists mainly of nerve fibers covered by myelin sheaths. These conditions are characterized by abnormalities in the structure and function of the white matter, leading to various neurological symptoms such as cognitive decline, motor impairment, seizures, and behavioral changes.

The term "leukoencephalopathy" is derived from two Greek words: "leukos," meaning white, and "enkephalos," meaning brain. The suffix "-pathy" refers to a disease or suffering. Therefore, leukoencephalopathies refer specifically to diseases that affect the white matter of the brain.

There are various types of leukoencephalopathies, including genetic, metabolic, infectious, toxic, and immune-mediated forms. Some examples include multiple sclerosis, adrenoleukodystrophy, Alexander disease, Canavan disease, and Marchiafava-Bignami disease. The diagnosis of leukoencephalopathies typically involves a combination of clinical evaluation, imaging studies such as MRI, and sometimes genetic or laboratory testing to identify the underlying cause. Treatment depends on the specific type and severity of the condition and may include medications, dietary modifications, physical therapy, or supportive care.

Arylsulfatases are a group of enzymes that play a role in the breakdown and recycling of complex molecules in the body. Specifically, they catalyze the hydrolysis of sulfate ester bonds in certain types of large sugar molecules called glycosaminoglycans (GAGs).

There are several different types of arylsulfatases, each of which targets a specific type of sulfate ester bond. For example, arylsulfatase A is responsible for breaking down sulfate esters in a GAG called cerebroside sulfate, while arylsulfatase B targets a different GAG called dermatan sulfate.

Deficiencies in certain arylsulfatases can lead to genetic disorders. For example, a deficiency in arylsulfatase A can cause metachromatic leukodystrophy, a progressive neurological disorder that affects the nervous system and causes a range of symptoms including muscle weakness, developmental delays, and cognitive decline. Similarly, a deficiency in arylsulfatase B can lead to Maroteaux-Lamy syndrome, a rare genetic disorder that affects the skeleton, eyes, ears, heart, and other organs.

Neurologic mutant mice are genetically engineered or spontaneously mutated rodents that are used as models to study various neurological disorders and conditions. These mice have specific genetic modifications or mutations that affect their nervous system, leading to phenotypes that resemble human neurological diseases.

Some examples of neurologic mutant mice include:

1. Alzheimer's disease models: Mice that overexpress genes associated with Alzheimer's disease, such as the amyloid precursor protein (APP) or presenilin 1 (PS1), to study the pathogenesis and potential treatments of this disorder.
2. Parkinson's disease models: Mice that have genetic mutations in genes associated with Parkinson's disease, such as alpha-synuclein or parkin, to investigate the mechanisms underlying this condition and develop new therapies.
3. Huntington's disease models: Mice that carry an expanded CAG repeat in the huntingtin gene to replicate the genetic defect seen in humans with Huntington's disease and study disease progression and treatment strategies.
4. Epilepsy models: Mice with genetic mutations that cause spontaneous seizures or increased susceptibility to seizures, used to investigate the underlying mechanisms of epilepsy and develop new treatments.
5. Stroke models: Mice that have surgical induction of stroke or genetic modifications that increase the risk of stroke, used to study the pathophysiology of stroke and identify potential therapeutic targets.

Neurologic mutant mice are essential tools in biomedical research, allowing scientists to investigate the complex interactions between genes and the environment that contribute to neurological disorders. These models help researchers better understand disease mechanisms, develop new therapies, and test their safety and efficacy before moving on to clinical trials in humans.

Alexander disease is a rare, progressive, and typically fatal neurological disorder that primarily affects the central nervous system. It is caused by mutations in the gene that provides instructions for making the glial fibrillary acidic protein (GFAP), which is a component of the supportive cells in the brain called astrocytes.

The disease is characterized by the accumulation of abnormal GFAP proteins, which form aggregates known as Rosenthal fibers. These deposits can cause damage to surrounding nerve cells and lead to symptoms such as developmental delay, seizures, spasticity, ataxia, and bulbar dysfunction (difficulty with speaking, swallowing, and breathing).

Alexander disease is classified into three types based on the age of onset and severity of symptoms. Type 1, or the infantile form, is the most common and severe type, typically presenting in the first two years of life. Types 2 and 3 are less common and have later onset, with Type 2 affecting children and adolescents and Type 3 affecting adults.

Currently, there is no cure for Alexander disease, and treatment is focused on managing symptoms and improving quality of life.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Myelin Proteolipid Protein (PLP) is a major component of the myelin sheath, which is a fatty insulating substance that covers and protects nerve fibers in the central nervous system (CNS). PLP makes up about 50% of the proteins found in the myelin sheath. It plays a crucial role in the structure and function of the myelin sheath, including maintaining its compactness and stability. Defects or mutations in the gene that encodes for PLP can lead to various demyelinating diseases, such as X-linked adrenoleukodystrophy (X-ALD) and Pelizaeus-Merzbacher disease (PMD), which are characterized by the degeneration of the myelin sheath and subsequent neurological impairments.

The Rotarod performance test is not a medical diagnosis or condition, but rather a laboratory test used in both preclinical research and clinical settings to evaluate various aspects of motor function and balance in animals, including mice and rats. The test is often used to assess the neurological status, sensorimotor function, and coordination abilities of animals following drug treatments, surgical interventions, or in models of neurodegenerative diseases.

In this test, a rodent is placed on a rotating rod with a diameter that allows the animal to comfortably grip it. The rotation speed gradually increases over time, and the researcher records how long the animal can maintain its balance and stay on the rod without falling off. This duration is referred to as the "latency to fall" or "rotarod performance."

The Rotarod performance test offers several advantages, such as its sensitivity to various neurological impairments, ease of use, and ability to provide quantitative data for statistical analysis. It can help researchers evaluate potential therapeutic interventions, monitor disease progression, and investigate the underlying mechanisms of motor function and balance in health and disease.

Enzyme Replacement Therapy (ERT) is a medical treatment approach in which functional copies of a missing or deficient enzyme are introduced into the body to compensate for the lack of enzymatic activity caused by a genetic disorder. This therapy is primarily used to manage lysosomal storage diseases, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidoses (MPS), among others.

In ERT, the required enzyme is produced recombinantly in a laboratory using biotechnological methods. The purified enzyme is then administered to the patient intravenously at regular intervals. Once inside the body, the exogenous enzyme is taken up by cells, particularly those affected by the disorder, and helps restore normal cellular functions by participating in essential metabolic pathways.

ERT aims to alleviate disease symptoms, slow down disease progression, improve quality of life, and increase survival rates for patients with lysosomal storage disorders. However, it does not cure the underlying genetic defect responsible for the enzyme deficiency.

Galactosidases are a group of enzymes that catalyze the hydrolysis of galactose-containing sugars, specifically at the beta-glycosidic bond. There are several types of galactosidases, including:

1. Beta-galactosidase: This is the most well-known type of galactosidase and it catalyzes the hydrolysis of lactose into glucose and galactose. It has important roles in various biological processes, such as lactose metabolism in animals and cell wall biosynthesis in plants.
2. Alpha-galactosidase: This enzyme catalyzes the hydrolysis of alpha-galactosides, which are found in certain plant-derived foods like legumes. A deficiency in this enzyme can lead to a genetic disorder called Fabry disease.
3. N-acetyl-beta-glucosaminidase: This enzyme is also known as hexosaminidase and it catalyzes the hydrolysis of N-acetyl-beta-D-glucosamine residues from glycoproteins, glycolipids, and other complex carbohydrates.

Galactosidases are widely used in various industrial applications, such as food processing, biotechnology, and biofuel production. They also have potential therapeutic uses, such as in the treatment of lysosomal storage disorders like Fabry disease.

I'm sorry for any confusion, but "Lamin Type B" is not a recognized medical term or concept in human physiology or pathology. The term "lamin" refers to proteins that are part of the nuclear lamina, a filamentous network found inside the nucleus of cells. There are three types of lamin proteins: A, B, and C.

Lamin A and Lamin C are produced from the LMNA gene, while Lamin B1 and Lamin B2 are produced from the LMNB1 and LMNB2 genes, respectively. Therefore, "Lamin Type B" is not a specific designation, but rather encompasses two distinct proteins: Lamin B1 and Lamin B2.

If you have any questions about lamins or another medical topic, please provide more context or clarify your question so I can give you a more accurate answer.

Demyelinating diseases are a group of disorders that are characterized by damage to the myelin sheath, which is the protective covering surrounding nerve fibers in the brain, optic nerves, and spinal cord. Myelin is essential for the rapid transmission of nerve impulses, and its damage results in disrupted communication between the brain and other parts of the body.

The most common demyelinating disease is multiple sclerosis (MS), where the immune system mistakenly attacks the myelin sheath. Other demyelinating diseases include:

1. Acute Disseminated Encephalomyelitis (ADEM): An autoimmune disorder that typically follows a viral infection or vaccination, causing widespread inflammation and demyelination in the brain and spinal cord.
2. Neuromyelitis Optica (NMO) or Devic's Disease: A rare autoimmune disorder that primarily affects the optic nerves and spinal cord, leading to severe vision loss and motor disability.
3. Transverse Myelitis: Inflammation of the spinal cord causing damage to both sides of one level (segment) of the spinal cord, resulting in various neurological symptoms such as muscle weakness, numbness, or pain, depending on which part of the spinal cord is affected.
4. Guillain-Barré Syndrome: An autoimmune disorder that causes rapid-onset muscle weakness, often beginning in the legs and spreading to the upper body, including the face and breathing muscles. It occurs when the immune system attacks the peripheral nerves' myelin sheath.
5. Central Pontine Myelinolysis (CPM): A rare neurological disorder caused by rapid shifts in sodium levels in the blood, leading to damage to the myelin sheath in a specific area of the brainstem called the pons.

These diseases can result in various symptoms, such as muscle weakness, numbness, vision loss, difficulty with balance and coordination, and cognitive impairment, depending on the location and extent of the demyelination. Treatment typically focuses on managing symptoms, modifying the immune system's response, and promoting nerve regeneration and remyelination when possible.

The myelin sheath is a multilayered, fatty substance that surrounds and insulates many nerve fibers in the nervous system. It is essential for the rapid transmission of electrical signals, or nerve impulses, along these nerve fibers, allowing for efficient communication between different parts of the body. The myelin sheath is produced by specialized cells called oligodendrocytes in the central nervous system (CNS) and Schwann cells in the peripheral nervous system (PNS). Damage to the myelin sheath, as seen in conditions like multiple sclerosis, can significantly impair nerve function and result in various neurological symptoms.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Brain diseases, also known as neurological disorders, refer to a wide range of conditions that affect the brain and nervous system. These diseases can be caused by various factors such as genetics, infections, injuries, degeneration, or structural abnormalities. They can affect different parts of the brain, leading to a variety of symptoms and complications.

Some examples of brain diseases include:

1. Alzheimer's disease - a progressive degenerative disorder that affects memory and cognitive function.
2. Parkinson's disease - a movement disorder characterized by tremors, stiffness, and difficulty with coordination and balance.
3. Multiple sclerosis - a chronic autoimmune disease that affects the nervous system and can cause a range of symptoms such as vision loss, muscle weakness, and cognitive impairment.
4. Epilepsy - a neurological disorder characterized by recurrent seizures.
5. Brain tumors - abnormal growths in the brain that can be benign or malignant.
6. Stroke - a sudden interruption of blood flow to the brain, which can cause paralysis, speech difficulties, and other neurological symptoms.
7. Meningitis - an infection of the membranes surrounding the brain and spinal cord.
8. Encephalitis - an inflammation of the brain that can be caused by viruses, bacteria, or autoimmune disorders.
9. Huntington's disease - a genetic disorder that affects muscle coordination, cognitive function, and mental health.
10. Migraine - a neurological condition characterized by severe headaches, often accompanied by nausea, vomiting, and sensitivity to light and sound.

Brain diseases can range from mild to severe and may be treatable or incurable. They can affect people of all ages and backgrounds, and early diagnosis and treatment are essential for improving outcomes and quality of life.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Oligodendroglia are a type of neuroglial cell found in the central nervous system (CNS) of vertebrates, including humans. These cells play a crucial role in providing support and insulation to nerve fibers (axons) in the CNS, which includes the brain and spinal cord.

More specifically, oligodendroglia produce a fatty substance called myelin that wraps around axons, forming myelin sheaths. This myelination process helps to increase the speed of electrical impulse transmission (nerve impulses) along the axons, allowing for efficient communication between different neurons.

In addition to their role in myelination, oligodendroglia also contribute to the overall health and maintenance of the CNS by providing essential nutrients and supporting factors to neurons. Dysfunction or damage to oligodendroglia has been implicated in various neurological disorders, such as multiple sclerosis (MS), where demyelination of axons leads to impaired nerve function and neurodegeneration.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Galactosylceramides are a type of glycosphingolipids, which are lipid molecules that contain a sugar (glyco-) attached to a ceramide. Galactosylceramides have a galactose molecule attached to the ceramide. They are important components of cell membranes and play a role in cell recognition and signaling. In particular, they are abundant in the myelin sheath, which is the protective covering around nerve fibers in the brain and spinal cord. Abnormal accumulation of galactosylceramides can lead to certain genetic disorders, such as Krabbe disease and Gaucher disease.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Muscle rigidity is a term used to describe an increased resistance to passive movement or muscle tone that is present at rest, which cannot be overcome by the person. It is a common finding in various neurological conditions such as Parkinson's disease, stiff-person syndrome, and tetanus. In these conditions, muscle rigidity can result from hyperexcitability of the stretch reflex arc or abnormalities in the basal ganglia circuitry.

Muscle rigidity should be distinguished from spasticity, which is a velocity-dependent increase in muscle tone that occurs during voluntary movement or passive stretching. Spasticity is often seen in upper motor neuron lesions such as stroke or spinal cord injury.

It's important to note that the assessment of muscle rigidity requires a careful physical examination and may need to be evaluated in conjunction with other signs and symptoms to determine an underlying cause.

... (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as ... Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. Like many other ... Metachromatic leukodystrophy at Genetics Home Reference. Reviewed September 2007 "MLD 101: Genetics". www.mldfoundation.org. ... "Arylsulfatase A Deficiency: Metachromatic Leukodystrophy, ARSA Deficiency". GeneReviews, 2006 Kishimoto Y, Hiraiwa M, O'Brien ...
Metachromatic leukodystrophy. Low arylsulphatase A activity can occur in healthy individuals. This poses a challenge in genetic ... Metachromatic leukodystrophy is a classic example of the difficulties caused by pseudodeficiency in carrier screening, because ...
Metachromatic leukodystrophy at Genetics Home Reference. Reviewed September 2007 Sphingolipidoses at the U.S. National Library ... Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994). "Molecular genetics of metachromatic leukodystrophy". Hum. ... Tay-Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably ... AB variant Glycolipids Fabry's disease Krabbe disease Metachromatic leukodystrophy Glucocerebrosides Gaucher's disease Lipid ...
1991). "Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy". Am ... Sevin C, Aubourg P, Cartier N (April 2007). "Enzyme, cell and gene-based therapies for metachromatic leukodystrophy". J. ... 1992). "Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient". Am. J. Hum. Genet. ... Kappler J, von Figura K, Gieselmann V (1992). "Late-onset metachromatic leukodystrophy: molecular pathology in two siblings". ...
Metachromatic leukodystrophy, also known as MLD, is a recessive lysosomal storage disorder. It is believed to be caused by a ... Metachromatic Leukodystrophy results in neurological manifestations that are centered on the impairment of the central nervous ... This then results in demyelination because of the buildup of sulfatide and is the main cause of Metachromatic Leukodystrophy. ... Accumulation of sulfatide can cause metachromatic leukodystrophy, a lysosomal storage disease and may be caused because of a ...
Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Saposin ... "Entrez Gene: PSAP prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)". Morimoto S, Yamamoto Y, ... 1995). "Molecular genetics of metachromatic leukodystrophy". Hum. Mutat. 4 (4): 233-42. doi:10.1002/humu.1380040402. PMID ... deficient metachromatic leukodystrophy". Hum. Genet. 87 (2): 211-5. doi:10.1007/BF00204185. PMID 2066109. S2CID 23791396. Fürst ...
The diagnosis of metachromatic leukodystrophy with venous blood samples. Science 1968; 161: 594-595. Sloan HR, Uhlendorf BW, ...
Three of the children had metachromatic leukodystrophy, which causes children to lose cognitive and motor skills. The other ... "Orchard Therapeutics Receives EC Approval for Libmeldy for the Treatment of Early-Onset Metachromatic Leukodystrophy (MLD)" ( ... "New gene therapy to treat rare genetic disorder metachromatic leukodystrophy". European Medicines Agency. 16 October 2020. ... August 2013). "Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy". Science. 341 (6148): ...
Atidarsagene autotemcel (branded as Libmeldy) for the treatment of metachromatic leukodystrophy (MLD), produced through ex vivo ... Biffi, A (2013). "Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy". Science. 341 (6148): ...
Metachromatic leukodystrophy, a lysosomal storage disease, leads to the accumulation of lipopigments and lysosomal residual ... Goebel, H. H.; Busch, H. (1990). "Abnormal Lipopigments and Lysosomal Residual Bodies in Metachromatic Leukodystrophy". ...
Metachromatic leukodystrophy and multiple sulfatase deficiency are classified as sulfatidoses. Sphingolipidoses#Overview for an ...
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol 30, 1893-1897. PMID ...
"Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy". Biol Blood Marrow ... Escolar is nationally and internationally known for her research and clinical care of children with leukodystrophies, lysosomal ... type A and studies evaluating transplantation outcomes for patients with Hurler syndrome and metachromatic leukodystrophy. ... expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy ...
Farooqui AA, Horrocks LA (1984). "Biochemical aspects of globoid and metachromatic leukodystrophies". Neurochem Pathol. 2 (3): ...
PTPN11 Metachromatic leukodystrophy due to SAP-b deficiency; 249900; PSAP Metachromatic leukodystrophy; 250100; ARSA ... FA2H Leukodystrophy, hypomyelinating, 2; 608804; GJC2 Leukodystrophy, hypomyelinating, 4; 612233; HSPD1 Leukodystrophy, ... KIND3 Leukodystrophy, adult-onset, autosomal dominant; 169500; LMNB1 Leukodystrophy, dysmyelinating, and spastic paraparesis ... with cerebral leukodystrophy; 192315; TREX1 VATER association with macrocephaly and ventriculomegaly; 276950; PTEN ...
Metachromatic leukodystrophy is another lysosomal storage disease that also affects sphingolipid metabolism. Dysfunctional ...
... is an experimental recombinant enzyme that was studied in patients with late infantile metachromatic leukodystrophy, ... "Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD) (IDEAMLD)". ... "Metachromatic leukodystrophy: To screen or not to screen?". European Journal of Paediatric Neurology. 46: 1-7. doi:10.1016/j. ... highlight the shift towards the need for newborn screening for metachromatic leukodystrophy as it allows for improved early ...
"Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)". ...
In February 2022, it was announced that NHS England would be providing the drug to metachromatic leukodystrophy patients, after ... Atidarsagene autotemcel, sold under the brand name Libmeldy, is a gene therapy treatment for metachromatic leukodystrophy (MLD ... "Orchard Therapeutics Receives EC Approval for Libmeldyâ„¢ for the Treatment of Early-Onset Metachromatic Leukodystrophy (MLD)". ... Atidarsagene autotemcel is indicated for the treatment of metachromatic leukodystrophy (MLD) characterized by biallelic ...
His researches revealed, for the first time, that metachromatic leukodystrophy, an autosomal recessive disease, was caused by ... gangoylism and metachromatic and globoid leukodystrophy)". J. Neurochem. 10 (11): 805-816. doi:10.1111/j.1471-4159.1963.tb11905 ... and for the elucidation of the molecular cause of metachromatic leukodystrophy, a hereditary disease of the brain His studies ... a lipid found in high concentrations in patients afflicted with metachromatic leukodystrophy were known to have helped in the ...
These new therapies have been proven effective for several rare diseases, including metachromatic leukodystrophy and spinal ...
Late infantile metachromatic leukodystrophy is occasionally known by the eponym Greenfield's disease because of his work ...
... it is often misdiagnosed as another type such as metachromatic leukodystrophy. More often than not, it is simply classified as ... Progressive multifocal leukoencephalopathy Metachromatic leukodystrophy General leukoencephalopathies Kuhlmann, T.; Lassmann, H ... The MRI of patients with VWM shows a well defined leukodystrophy. These MRIs display reversal of signal intensity of the white ... The disease belongs to a family of conditions called the Leukodystrophies.[citation needed] Onset usually occurs in childhood, ...
Tay-Sachs disease and Metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably ...
They further investigated the role of steroid sulfatases in metachromatic leukodystrophy and multiple sulfatase deficiency, and ... Hugo set up the test for urinary sulfatides and compared the composition of urinary lipids with that of brain in metachromatic ... Together with the parents' association United Leukodystrophy Foundation he provided support and guidance for families stricken ... leukodystrophy. Moser spent formative years in the research laboratories of the neurochemist Jordi Folch-Pi and Marjorie Lees ...
"Research". United Leukodystrophy Foundation. "Home , Cure MLD - Metachromatic leukodystrophy". curemld. "MLD Foundation". ... Kohlschutter, Alfried (April 25, 2013). Lysosomal leukodystrophies - Krabbe disease and metachromatic leukodystrophy. Handbook ... United Leukodystrophy Foundation. "Canavan Disease". United Leukodystrophy Foundation. United Leukodystrophy Foundation, Inc. ... metachromatic leukodystrophy (MLD) and Krabbe Disease (globoid cell leukodystrophy - GLD), gene therapy using autologous ...
Amaducci and colleagues hypothesized that Auguste Deter had metachromatic leukodystrophy, a rare condition in which ...
... metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease. They are generally inherited in an autosomal ...
Metabolic Storage Diseases:, Tay-Sachs disease Farber disease GM1 and GM2 gangliosidoses Metachromatic leukodystrophy Niemann- ...
... was diagnosed with adult-onset metachromatic leukodystrophy. Leukodystrophy Metachromatic leukodystrophy Adrenoleukodystrophy ... According to their website, the Stennis Foundation is committed to raising public awareness regarding the leukodystrophies, and ...
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as ... Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. Like many other ... Metachromatic leukodystrophy at Genetics Home Reference. Reviewed September 2007 "MLD 101: Genetics". www.mldfoundation.org. ... "Arylsulfatase A Deficiency: Metachromatic Leukodystrophy, ARSA Deficiency". GeneReviews, 2006 Kishimoto Y, Hiraiwa M, OBrien ...
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. ... medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/ Metachromatic leukodystrophy. ... Metachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a ... Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the ...
... metachromatic leukodystrophy included). Four types of metachromatic leukodystrophy occur with varying ages of onset and courses ... Metachromatic leukodystrophy (MLD) is part of a larger group of lysosomal storage diseases, some of which are progressive, ... encoded search term (Metachromatic Leukodystrophy) and Metachromatic Leukodystrophy What to Read Next on Medscape ... Metachromatic Leukodystrophy Differential Diagnoses. Updated: Jan 22, 2021 * Author: Anna V Blenda, PhD; Chief Editor: Luis O ...
... an investigational drug known as SHP611 in individuals with a confirmed diagnosis late infantile metachromatic leukodystrophy ( ... an investigational drug known as SHP611 in individuals with a confirmed diagnosis late infantile metachromatic leukodystrophy ( ...
Metachromatic leukodystrophy was found to be more frequent among Arabs living in two restricted areas in Israel. Ten fa … ... Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. The disease occurs ... Metachromatic leukodystrophy was found to be more frequent among Arabs living in two restricted areas in Israel. Ten families ... Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area Am J Hum ...
... metachromatic leukodystrophy included). Four types of metachromatic leukodystrophy occur with varying ages of onset and courses ... Metachromatic leukodystrophy (MLD) is part of a larger group of lysosomal storage diseases, some of which are progressive, ... encoded search term (Metachromatic Leukodystrophy) and Metachromatic Leukodystrophy What to Read Next on Medscape ... Metachromatic Leukodystrophy. Updated: Jan 22, 2021 * Author: Anna V Blenda, PhD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, ...
What Is Metachromatic Leukodystrophy (MLD)?. Metachromatic Leukodystrophy (MLD), a disease caused by mutations in the ARSA gene ... United Leukodystrophy Foundation. A non-profit that supports the families of those with leukodystrophies such as metachromatic ... Genetics Home Reference- Metachromatic leukodystrophy. Explanations of an extensive number of genetic diseases, written for ... Genetic and Rare Diseases Information Center (GARD)- Metachromatic leukodystrophy. GARD is a program of the National Center for ...
Metachromatic Leukodystrophy (MLD) Pipeline Report is a comprehensive report on the pre-clinical and clinical stage pipeline ... Recent Metachromatic Leukodystrophy (MLD) market news and developments. Table of Contents. 1. Metachromatic Leukodystrophy (MLD ... 2.2 Metachromatic Leukodystrophy (MLD) Drugs by Mechanism of Action. 2.3 Metachromatic Leukodystrophy (MLD) Drugs by Route of ... 2.2 Metachromatic Leukodystrophy (MLD) Drugs by Mechanism of Action. 2.3 Metachromatic Leukodystrophy (MLD) Drugs by Route of ...
Learn and reinforce your understanding of Metachromatic leukodystrophy (NORD). ... Metachromatic leukodystrophy (NORD) Videos, Flashcards, High Yield Notes, & Practice Questions. ... Metachromatic leukodystrophy, or MLD, is a rare lysosomal storage disorder that results from mutations in the ARSA gene, which ... These sulfatide aggregates are called metachromatic since they appear differently colored than the cellular material when ...
Metachromatic leukodystrophy. Diffuse slowing progresses to high-voltage generalized delta activity. Epileptic activity is rare ... What EEG findings are characteristic of metachromatic leukodystrophy?. What EEG findings are characteristic of Tay-Sachs ...
... metachromatic leukodystrophy included). Four types of metachromatic leukodystrophy occur with varying ages of onset and courses ... Metachromatic leukodystrophy (MLD) is part of a larger group of lysosomal storage diseases, some of which are progressive, ... encoded search term (Metachromatic Leukodystrophy) and Metachromatic Leukodystrophy What to Read Next on Medscape ... Metachromatic Leukodystrophy Differential Diagnoses. Updated: Aug 21, 2014 * Author: Alan K Ikeda, MD; Chief Editor: Luis O ...
... metachromatic leukodystrophy included). Four types of metachromatic leukodystrophy occur with varying ages of onset and courses ... Metachromatic leukodystrophy (MLD) is part of a larger group of lysosomal storage diseases, some of which are progressive, ... encoded search term (Metachromatic Leukodystrophy) and Metachromatic Leukodystrophy What to Read Next on Medscape ... metachromatic leukodystrophy included). Four types of metachromatic leukodystrophy occur with varying ages of onset and courses ...
We appreciate your desire to raise money on behalf of the MLD Foundaiton and our goals (We C.A.R.E.) Compassion, Awareness, Research, and Education.. MLD Foundation is often asked if we can be partners in a fund raising event or product. These pages should help to clarify our philosophy and policies for engaging in various fundraising events. Fundraising can be a lot of work. Unlike many foundations, MLD Foundations goals are much broader than just raising money so we will likely ask you to carry the responsibility for most, if not all of your fundraising event. This include the organization of the event, the pubility, and the logisitics of registration/tickets/donations.pledges. We will also ask for you to account for all of the finances for your event, including the data entry of the donor names, contatc information, and the amount/form of their donations.. Most donors like to support 501(c)(3) non-profit organizations - especially those that help people, and more often than not your personal ...
Metachromatic Leukodystrophy - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... In metachromatic leukodystrophy, arylsulfatase A deficiency causes metachromatic lipids to accumulate in the white matter of ... Metachromatic Leukodystrophy (Sulfatide Lipidosis). By Matt Demczko , MD, Mitochondrial Medicine, Childrens Hospital of ... Metachromatic leukodystrophy is a sphingolipidosis Sphingolipidoses Lysosomal enzymes break down macromolecules, either those ...
Tag: metachromatic leukodystrophy. Orchard Therapeutics Moves Closer to a Breakthrough Treatment for MLD. Orchard Therapeutics ... has recently made significant strides in the development of a treatment for metachromatic leukodystrophy (MLD). Heres a ...
Metachromatic Leukodystrophy. Type. Interventional. Phase. Phase 1Phase 2. Design. Allocation: N/AIntervention Model: Single ...
Metachromatic Leukodystrophy (MLD) Treatment Market 2023, Metachromatic Leukodystrophy (MLD) Treatment Market Analysis, ... Metachromatic Leukodystrophy (MLD) Treatment Market SWOT Analysis. Global Metachromatic Leukodystrophy (MLD) Treatment Market ... Metachromatic Leukodystrophy (MLD) Treatment Market In Key Countries, Metachromatic Leukodystrophy (MLD) Treatment Market Is ... Metachromatic Leukodystrophy (MLD) Treatment Market Future Scope, Metachromatic Leukodystrophy (MLD) Treatment Market Growth ...
... quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy. Together they form a unique ... quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy. ...
Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and ... Four novel ,em,ARSA,/em, gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to ... Psychomotor regression; Demyelinating; Gait abnormality and impairment; Metachromatic leukodystrophy (MLD); Behavioral ... gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic ...
Metachromatic leukodystrophy (MLD) is a group of disorders marked by storage buildup in the white matter of the central nervous ... Krabbe disease (also known as globoid cell leukodystrophy and galactosylceramide lipidosis) is an autosomal recessive disorder ...
Metachromatic leukodystrophy (MLD) A group of disorders marked by storage buildup in the white matter of the central nervous ... Krabbé disease (globoid cell leukodystrophy or galactosylceramide lipidosis) An autosomal recessive disorder caused by ...
Metachromatic leukodystrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated January 20, 2011 ... What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed ... www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm. Updated May 6, 2010. Accessed February 13, 2014. ... Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http:// ...
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 2013, 341, 1233158. [Google ...
Metachromatic leukodystrophy Variation info Gene ARSA CLNDBN Metachromatic leukodystrophy Reversed 1. HGVS NC_000022.10:g. ...
MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol 1997;18:733-738. ... More common conditions, such as the mitochondrial leukodystrophies and Krabbes disease, were described in sufficient detail to ...
Recurrent seizures in metachromatic leukodystrophy. T Balslev, MA Cortez, SI Blaser, RHA Haslam ...
Metachromatic Leukodystrophy. (MLD). Seymour, TN. Born: 08/30/03. Went to Heaven: 10/10/22 ...
Metachromatic Leukodystrophy (MLD) Marketed and Pipeline Drugs Assessment, Clinical Trials and Competitive Landscape. Oct 15, ...
Metachromatic Leukodystrophy (mld) (1) * Multiple Sclerosis (2) * Epilepsy(3). * Childhood Epilepsy(2). ...
  • The presence of normal urinary sulfatide levels (vs elevated levels in patients with metachromatic leukodystrophy [MLD]) distinguishes ARSA pseudodeficiency from MLD. (medscape.com)
  • Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD). (medscape.com)
  • A closer look at ARSA activity in a patient with metachromatic leukodystrophy. (medscape.com)
  • Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. (medscape.com)
  • Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. (medscape.com)
  • Metachromatic Leukodystrophy (MLD), a disease caused by mutations in the ARSA gene, is the most common disorder in a group of diseases known as leukodystrophies which primarily affect the nervous system. (myriad.com)
  • Metachromatic leukodystrophy , or MLD, is a rare lysosomal storage disorder that results from mutations in the ARSA gene, which codes for arylsulfatase A - an enzyme that normally breaks down a fat called sulfatide. (osmosis.org)
  • Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? (bvsalud.org)
  • Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? (bvsalud.org)
  • A few individuals with metachromatic leukodystrophy have mutations in the PSAP gene. (medlineplus.gov)
  • Anlar B, Waye JS, Eng B. Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations. (medscape.com)
  • Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations. (medscape.com)
  • In one of the most common mutations causing metachromatic leukodystrophy, the P426L-allele of arylsulfatase A (ASA), the deficiency of ASA results from its instability in lysosomes. (uni-bielefeld.de)
  • Krabbe disease , also known as globoid cell leukodystrophy , is an autosomal recessive lysosomal storage disorder resulting in damage to cells involved in myelin turnover. (radiopaedia.org)
  • krabbe disease (also called Globoid Cell Leukodystrophy). (geometry.net)
  • krabbe disease (Globoid Cell Leukodystrophy) mini factsheets NINDS. (geometry.net)
  • On the basis of types, leukodystrophy drug market is segmented as metachromatic leukodystrophy, Krabbe disease, X-linked adrenoleukodystrophy, Alexander disease, Fabry disease and others. (diggerslist.com)
  • Kurtzberg was of the opinion that the test appears to be open to pregnant women who are at risk of having a baby with Krabbe disease, metachromatic leukodystrophy (MLD), Pelizaeus-Maerzbacher Disease (PMD), Tay-Sachs disease, or Sandoff disease. (healthjockey.com)
  • Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. The disease occurs panethnically, with an estimated frequency of 1/40,000. (nih.gov)
  • A deficiency in the lysosomal enzyme sulfatide sulfatase (arylsulfatase A) is present in metachromatic leukodystrophy. (medscape.com)
  • Some patients with clinical metachromatic leukodystrophy have normal arylsulfatase A activity but lack an activator protein that is involved in sulfatide degradation. (medscape.com)
  • Genetic analysis of a patient with late infantile metachromatic leukodystrophy]. (medscape.com)
  • The primary objective of this study is to evaluate the safety and efficacy of an investigational drug known as SHP611 in individuals with a confirmed diagnosis late infantile metachromatic leukodystrophy (MLD). (chop.edu)
  • Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. (clinicaltrialsregister.eu)
  • Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. (wikipedia.org)
  • Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). (medlineplus.gov)
  • While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder . (medlineplus.gov)
  • These sulfatide aggregates are called metachromatic since they appear differently colored than the cellular material when stained and seen under the microscope. (osmosis.org)
  • [1] She was diagnosed with metachromatic leukodystrophy, a rare neurodegenerative disorder, and was given mere years to live. (bmj.com)
  • Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. (orpha.net)
  • Metachromatic Leukodystrophy (MLD) Pipeline Report is a comprehensive report on the pre-clinical and clinical stage pipeline candidates under development as of H1- 2023. (bharatbook.com)
  • The report estimates a promising pipeline for Metachromatic Leukodystrophy (MLD) between 2023 and 2030. (bharatbook.com)
  • Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy. (medscape.com)
  • Multiple acyl-CoA dehydrogenase deficiency- (MADD-), also called glutaric aciduria type 2, associated leukodystrophy may be severe and progressive despite conventional treatment with protein- and fat-restricted diet, carnitine, riboflavin, and coenzyme Q10. (nature.com)
  • Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. (medlineplus.gov)
  • The incidence of metachromatic leukodystrophy (MLD) is estimated to be 1 case per 40,000 births in the United States. (medscape.com)
  • Metachromatic leukodystrophy actually describes a continuum of clinical severity. (medscape.com)
  • Death of patients with the late infantile form of metachromatic leukodystrophy (MLD) results within approximately 5 years after the clinical observation of symptoms. (medscape.com)
  • The report provides in-depth information on the Metachromatic Leukodystrophy (MLD) clinical trials of each pipeline product. (bharatbook.com)
  • The company has completed its prioritization and will continue to advance its ongoing three clinical programs as well as its preclinical programs in metachromatic leukodystrophy, amyotrophic lateral sclerosis and Huntington's disease and its exploratory research programs in Alzheimer's disease and temporal lobe epilepsy. (biospace.com)
  • Clinical manifestations include hypoketotic hypoglycaemia, metabolic acidosis, cardiomyopathy, neurodevelopmental delay with leukodystrophy and myopathy. (nature.com)
  • Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. (wikipedia.org)
  • Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective. (medscape.com)
  • It thus affects both the peripheral nervous system and the central nervous system (manifesting as a leukodystrophy ). (radiopaedia.org)
  • Driven by robust market growth prospects for Metachromatic Leukodystrophy (MLD) therapeutic drugs, a large number of companies are investing in the preclinical Metachromatic Leukodystrophy (MLD) pipeline. (bharatbook.com)
  • People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. (medlineplus.gov)
  • The differential diagnosis is largely that of other leukodystrophies , mainly metachromatic leukodystrophy 12 . (radiopaedia.org)
  • Differential diagnosis includes other neurodegenerative disorders such as Alexander disease, Tay-Sachs disease, metachromatic leukodystrophy, and glutaric acidemia type 1 (see these terms). (orpha.net)
  • Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. (wikipedia.org)
  • The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination. (medlineplus.gov)
  • Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. (medlineplus.gov)
  • We are thrilled to have recently submitted an IND for PBML04 in metachromatic leukodystrophy, our third rare, pediatric, lysosomal storage disorder program," Dr. Goldsmith added. (biospace.com)
  • An IND has been submitted for PBML04 in metachromatic leukodystrophy (MLD), a rare, pediatric, lysosomal storage disorder. (biospace.com)
  • Histologic examination of the tissues often reveals metachromatic granules. (medscape.com)
  • Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia. (medscape.com)
  • Phenotypic variation between siblings with metachromatic leukodystrophy. (medscape.com)
  • Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. (medscape.com)
  • Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (medscape.com)
  • Givogri MI, Galbiati F, Fasano S. Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. (medscape.com)
  • Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. (um.edu.my)
  • There are also numerous medical conditions, especially brain disorders and neurological conditions, like epilepsy or brain tumor or metachromatic leukodystrophy, which can look exactly like schizophrenia. (consultantlive.com)
  • Major factors that are expected to boost the growth of the leukodystrophy drug market in the forecast period are the rise in the incidence of neurological disorders. (diggerslist.com)
  • The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. (medlineplus.gov)
  • The leukodystrophy drug market is expected to witness market growth at a rate of 5.90% for the forecast period of 2022-2029. (diggerslist.com)
  • Metachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. (medlineplus.gov)
  • A complete pipeline review of the current treatments and therapies being developed for Metachromatic Leukodystrophy (MLD), Data, and insights into pipeline candidates including a detailed overview of the highlighted target and drug characteristics, companies, and developments are included. (bharatbook.com)
  • Metachromatic leukodystrophy: Disease spectrum and approaches for treatment. (medscape.com)
  • Sequence variants in three genes underlying leukodystrophy in Pakistani families. (medscape.com)
  • Magnetic resonance (MR) imaging showed diffuse leukodystrophy. (nature.com)
  • Brain CT scan or MRI show diffuse white matter degeneration and leukodystrophy progressing with age. (orpha.net)
  • The Metachromatic Leukodystrophy (MLD) pipeline assessment report provides details of drug companies, originators, licensing and collaborating partners, and others involved in the Metachromatic Leukodystrophy (MLD) pipeline industry. (bharatbook.com)
  • Leukodystrophy is known to be a group of disorders that impact the central nervous system (CNS). (diggerslist.com)
  • Metachromatic leukodystrophy (MLD) is part of a larger group of inherited lysosomal storage diseases, some of which are progressive and neurodegenerative disorders (MLD included). (medscape.com)
  • Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm. (epnet.com)
  • In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. (medscape.com)
  • For each of the Metachromatic Leukodystrophy (MLD) pipeline candidate, details of leading companies, phase of development, mechanism of action, route of administration, molecule type, and other critical information is provided. (bharatbook.com)
  • Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. (medscape.com)
  • There is currently no effective treatment for metachromatic leukodystrophy in patients with advanced symptoms. (msdmanuals.com)
  • Orchard Therapeutics, a global leader in gene therapy, has recently made significant strides in the development of a treatment for metachromatic leukodystrophy (MLD). (nationalstemcelltherapy.com)
  • 13 ) published three patients with MADD, one with predominant leukodystrophy and two with cardiomyopathy who responded very well to treatment with NaHB. (nature.com)
  • Here, we provide extensive documentation of a patient with MADD who presented at 2.5 y of age with severe leukodystrophy and who has remarkably improved on NaHB treatment both clinically and on magnetic resonance (MR) imaging and spectroscopy. (nature.com)
  • Orchard's OTL-200 to Enter US Metachromatic Leukodystrophy Treatment Space Af. (delveinsight.com)
  • The leukodystrophy drug market is segmented on the basis of types, therapy, treatment, drugs class, route of administration & distribution channel. (diggerslist.com)
  • Considering treatment, the leukodystrophy drug market is segmented as medication and stem cell transplant. (diggerslist.com)
  • Moreover, the growing demand for the better treatment methods is further estimated to cushion the growth of the leukodystrophy drug market. (diggerslist.com)
  • On the other hand, the growing cost of the treatment offered is further projected to impede the growth of the leukodystrophy drug market in the timeline period. (diggerslist.com)
  • Leukodystrophy is considered by the degeneration of the white matter in the brain that is caused by the imperfect development of the myelin sheath, found around the nerve fibers. (diggerslist.com)
  • A patient with Leukodystrophy experiences decreased motor function, muscle rigidity, and degeneration of sight and hearing. (diggerslist.com)
  • In patients, inability to degrade sulfated glycolipids, especially the galactosyl-3-sulfate ceramides, characterizes metachromatic leukodystrophy (MLD). (medscape.com)
  • In 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. (medlineplus.gov)
  • On the basis of drugs class, the leukodystrophy drug market is segmented into anti-epileptics, analgesics and others. (diggerslist.com)
  • In people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. (medlineplus.gov)
  • The current Metachromatic Leukodystrophy (MLD) pipeline study examines the state of the drug pipeline and provides insights into the global vitiligo industry. (bharatbook.com)
  • This quarterly updated report provides data and critical insights into the current pipeline of therapeutic candidates in development with the potential to address Metachromatic Leukodystrophy (MLD). (bharatbook.com)
  • To structure the winning Leukodystrophy Drug Market report in an excellent way, a nice blend of advanced industry insights, practical solutions, talent solutions and latest technology is utilized which gives a brilliant experience to the readers or end users. (diggerslist.com)
  • Data Bridge Market Research report on the leukodystrophy drug market provides analysis and insights regarding the various factors expected to be prevalent throughout the forecast period while providing their impacts on the market's growth. (diggerslist.com)