Hereditary Central Nervous System Demyelinating Diseases

Demyelinating Diseases

Central Nervous System

Demyelinating Autoimmune Diseases, CNS

Hereditary CNS demyelinating disease

List of MeSH codes (C10)

Inflammatory demyelinating diseases of the central nervous system

List of MeSH codes (C16)

Demyelinating disease

List of MeSH codes (C20)

List of ICD-9 codes 320-389: diseases of the nervous system and sense organs

Familial Danish dementia

Megalencephalic leukoencephalopathy with subcortical cysts

Hereditary sensory and autonomic neuropathy type I

Leber's hereditary optic neuropathy

Peripheral myelin protein 22

Neurodegenerative disease

Peripheral neuropathy

Multiple sclerosis research

Multiple sclerosis

Garth Ehrlich

Primary lateral sclerosis

Chronic inflammatory demyelinating polyneuropathy

Myelinoid

Myelin protein zero

Waardenburg syndrome

List of diseases (C)

Evoked potential

Rheobase

Cystatin C

Epigenetics of neurodegenerative diseases

Neuropathies8

• hereditary neuropathies, acquired neuropathies. (unicampania.it)
• Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies. (annaly-nevrologii.com)
• That complicates the differential diagnosis of hereditary neuropathies. (annaly-nevrologii.com)
• CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. (annaly-nevrologii.com)
• The PMP22 gene is located on chromosome 17p11.2 and mutations as well as alterations in the gene dosage are causative for a group of hereditary neuropathies affecting approximately 1 in 2500 humans 2 , 3 . (biorxiv.org)
• CMT (Charcot-Marie-Tooth) disease is a heterogeneous group of inherited peripheral neuropathies in which the neuropathy is the sole or primary component of the disorder. (cmt.org.uk)
• CMTX and CMT type 4 (CMT4 - usually autosomal recessive) are also demyelinating neuropathies. (cmt.org.uk)
• There are different types of motor neuropathies, including multifocal motor neuropathy (MMN), which is a rare disease that affects the body's motor nerves . (gshs.org)

Disorders17

• Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. (nih.gov)
• A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. (childrensmercy.org)
• [9] A LHON -associated MS [10] has also been reported, and in addition there have been inconclusive reports of TNF-α blockers inducing demyelinating disorders. (mdwiki.org)
• These conditions can appear as Neuromyelitis optica (NMO), and its associated "spectrum of disorders" (NMOSD), currently considered a common syndrome for several separated diseases [16] but with some still idiopathic subtypes. (mdwiki.org)
• Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders in which a permanent deficiency in [5 genes] the amount of myelin occurs in the central nervous system, either due to its abnormal formation or to altered oligodendrocyte differentiation or migration. (healthincode.com)
• On the other hand, unlike demyelinating disorders where the T1-weighed sequence signal is hypointense, changes in this sequence can be isointense or slightly hypo- or hyperintense. (healthincode.com)
• Among the most frequent disorders is Pelizaeus-Merzbacher disease (PMD) , caused by pathogenic variants in the PLP1 gene, as well as a series of diseases with similar clinical and radiologic features, known as PMD-like diseases (PMDL), caused by defects in GJC2, AIMP1, or HSPD . (healthincode.com)
• Hereditary spastic paraplegias (HSPs) encompass a group of neurodegenerative disorders with lower limb spasticity due to degeneration of the corticospinal tract as most prominent sign. (biomedcentral.com)
• 128 patients (58 women, 70 men) from 109 families were recruited by specialised HSP outpatient clinics in Bochum, Kiel, and Tübingen, Germany, in the context of the German Network of Hereditary Movement Disorders (GeNeMove). (biomedcentral.com)
• Disorders such as Charcot-Marie-Tooth disease are hereditary types of neuropathy that run in families. (mayoclinic.org)
• An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. (centrodinoferrari.com)
• While these disorders can still be considered rare, defective mitochondrial dynamics seem to play a significant role in the molecular and cellular pathogenesis of more common neurodegenerative diseases, for example, Alzheimer's and Parkinson's diseases. (centrodinoferrari.com)
• The Department of Neurology at Healing Hospital deals with managing and treating disorders related to the nervous system of the body. (healinghospital.co.in)
• The neurologist treats disorders that affect the brain, spinal cord, and nerves, such as: Cerebrovascular disease, such as stroke. (healinghospital.co.in)
• Neurology is a medical speciality dealing with disorders of the nervous system. (wikidoc.org)
• Neurological disorders are disorders that affect the central nervous system ( brain and spinal cord ), the peripheral nervous system , or the autonomic nervous system . (wikidoc.org)
• Information about Pelizaeus-Merzbacher disease is also available from the National Institutes of Health (NIH) at http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm. (medscape.com)

Sensory8

• In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
• Stimulation produces an action potential that travels up the axon toward the spinal cord and past the cell bodies of the sensory axons of the large-fiber sensory system in the dorsal root ganglia to the ipsilateral posterior columns of the spinal cord. (medscape.com)
• Comprehensive electrophysiological testing disclosed a more widespread affection of long fibre tracts involving peripheral nerves and the sensory system in 40%, respectively. (biomedcentral.com)
• Whereas HSP is primarily considered as an upper motoneuron disorder, our data suggest a more widespread affection of motor and sensory tracts in the central and peripheral nervous system as a common finding in HSP. (biomedcentral.com)
• To analyse the spread of long fibre tract affection in HSP and to explore potential effects of different pathomechanisms in distinct genotypes we studied motor and sensory involvement of the central and peripheral nervous system by clinical and electrophysiological means in a representative cohort of HSP patients. (biomedcentral.com)
• The peripheral nerves also send sensory information to the central nervous system through sensory nerves. (mayoclinic.org)
• In contrast to the motor system, the cell bodies of the afferent sensory fibers lie outside the spinal cord, in dorsal root ganglia. (msdmanuals.com)
• CMT type 2 (CMT2 - also known as hereditary motor and sensory neuropathy type II (HMSN-II)) is primarily an axonal disorder, not a demyelinating disorder. (cmt.org.uk)

Disorder6

• Neurological manifestations are caused by disorder in the central and the peripheral nervous system. (amedi.sk)
• Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness Anyone can develop epilepsy. (brainandnervecenter.com)
• It is a rare chronic demyelinating disorder that affects the optic nerve and spinal cord. (brainandnervecenter.com)
• Optic neuromyelitis, also known as Devic's disorder or neuromyelitis optica, is a central nervous system disease that primarily affects the eye and spinal cord. (brainandnervecenter.com)
• Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system. (clinlabint.com)
• Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. (nih.gov)

Metabolic1

• These include metabolic conditions such as kidney disease or liver disease, and an underactive thyroid, also known as hypothyroidism. (mayoclinic.org)

MYELIN8

• Inflammatory demyelinating diseases (IDDs), sometimes called Idiopathic (IIDDs) due to the unknown etiology of some of them, are a heterogenous group of demyelinating diseases - conditions that cause damage to myelin , the protective sheath of nerve fibers - that occur against the background of an acute or chronic inflammatory process. (mdwiki.org)
• Multiple sclerosis ( MS ) is a disease that causes demyelination (disruption of the myelin that insulates and protects nerve cells) of spinal nerve and brain cells. (medicinenet.com)
• Multiple sclerosis is a disease that involves an immune-mediated process that results in an abnormal response in the body's immune system that damages central nervous system (CNS) tissues in which the immune system attacks myelin, the substance that surrounds and insulates nerve fibers causing demyelination that leads to nerve damage. (medicinenet.com)
• Duplication of the gene encoding the myelin protein PMP22 causes the hereditary neuropathy Charcot-Marie-Tooth disease 1A (CMT1A), characterized by hypomyelination of medium to large caliber peripheral axons. (biorxiv.org)
• Conversely, haplo-insufficiency of PMP22 leads to focal myelin overgrowth in hereditary neuropathy with liability to pressure palsies (HNPP). (biorxiv.org)
• A hallmark of the HNPP disease is the formation of tomacula, extensive formation of myelin sheaths at cytoplasmic areas, such as paranodes and Schmidt-Lanterman incisures leading to deformed and constricted axons and subsequently demyelination 7 - 9 . (biorxiv.org)
• A demyelinating disease is an ailment that causes damage to the protective coating (myelin sheath) that covers nerve fibres in the brain, optic nerves, and spinal cord. (a2zfitnessmart.com)
• The most frequent demyelinating disease of the central nervous system is multiple sclerosis (MS). As per research , under MS, the immune system damages the myelin sheath or the cells that make and sustain this sheath. (a2zfitnessmart.com)

Axonal7

• Autosomal recessive forms can be also divided into demyelinating (CMT4 or AR-CMT1) and axonal forms (AR-CMT2). (medscape.com)
• Traditionally, CMT pathophysiology has been categorized into 2 processes: a predominant demyelinating process resulting in low conduction velocities (CMT1) and a predominant axonal process resulting in low potential amplitudes (CMT2). (medscape.com)
• However, even for CMT1 a heated debate has focused on the relative contribution of axonal versus demyelinative damage to the disease manifestations and progression. (medscape.com)
• Whereas all patients showed clinical signs of spastic paraparesis, MEPs were normal in 27% of patients and revealed a broad spectrum with axonal or demyelinating features in the others. (biomedcentral.com)
• Conditions linked to CMT with comparable symptoms include: HNPP - Hereditary Neuropathy with Liability to Pressure Palsies, GAN - Giant Axonal Neuropathy. (cmt.org.uk)
• The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. (nih.gov)
• GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease. (cdc.gov)

Heterogeneity1

• However, disease course is varied, reflecting both genotypic and phenotypic heterogeneity. (cmt.org.uk)

Multiple sclerosis9

• This is in contrast to autoimmune demyelinating conditions, such as multiple sclerosis, or conditions such as central pontine myelinolysis that are associated with acute acquired insult. (wikipedia.org)
• They are sometimes considered different diseases from Multiple Sclerosis, [4] [5] but considered by others to form a spectrum differing only in terms of chronicity, severity, and clinical course. (mdwiki.org)
• Multiple sclerosis for some people is a syndrome more than a single disease. (mdwiki.org)
• Some anti- neurofascin demyelinating diseases were previously considered a subtype of Multiple Sclerosis but now they are considered a separate entity, as it happened before to anti-MOG and anti-AQP4 cases. (mdwiki.org)
• Optic neuritis (ON) is a demyelinating inflammation of the optic nerve that often occurs in association with multiple sclerosis (MS) and, much less commonly, neuromyelitis optica (NMO). (medscape.com)
• Because the exact antigen or target of the immune-mediated attack is not known, many experts prefer to label multiple sclerosis as 'immune-mediated instead of an autoimmune disease. (medicinenet.com)
• Multiple sclerosis is a disease that causes demyelination of the brain and spinal cord nerve cells. (medicinenet.com)
• Our world-class experts are committed to your neurological care, whether you've got Alzheimer's disease, multiple sclerosis, epilepsy, ALS or any other neurological disease. (healinghospital.co.in)
• Demyelinating diseases of the central nervous system, such as multiple sclerosis. (healinghospital.co.in)

Clinical9

• We performed a systematic review of the literature according to PRISMA guidelines, including all patients with this disease and available clinical data, focusing on visual involvement. (bvsalud.org)
• An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE . (nih.gov)
• Therefore, one given pathogenic underlying condition can yield several clinical diseases, and one disease can be produced by several pathogenic conditions. (mdwiki.org)
• A distinct clinical entity from other inflammatory demyelinating diseases. (mdwiki.org)
• The epilepsy, parkinsonism, progressive ataxia, spastic paraparesis, and demyelinating polyneuropathy occur in the clinical picture of a neurological nature. (amedi.sk)
• For CMTX1 there is usually subclinical central nervous system involvement (eg, mild clinical signs, MRI cerebral white matter abnormalities, and EEG abnormalities). (cmt.org.uk)
• This information helps the neurologist determine if the problem exists in the nervous system and the clinical localization. (wikidoc.org)
• Although Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are nosologically distinguished, they are at opposite ends of a clinical spectrum of X-linked diseases caused by mutations of the same gene, the proteolipid protein 1 ( PLP1 ) gene, and result in defective central nervous system (CNS) myelination (see the image below). (medscape.com)
• Severe clinical syndromes (sometimes referred to as the connatal forms of Pelizaeus-Merzbacher disease) are typically caused by missense and other small mutations that affect critical positions in PLP1 , whereas the milder spastic paraplegia syndrome is caused by mutations that presumably affect less critical regions of the protein. (medscape.com)

Chronic4

• Design of the COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint study (CONFIDENCE). (nih.gov)
• Psoriasis is a chronic inflammatory autoimmune skin disease, characterized by the formation of erythematous scaly plaques on the skin and joints. (clinlabint.com)
• Behçet's disease (BD) is a chronic inflammatory and multisystemic autoimmune disease of unknown etiology. (clinlabint.com)
• Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study. (cdc.gov)

Congenital2

• Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. (uams.edu)
• The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. (uams.edu)

Rare hereditary1

• Cerebrotendinous xanthomatosis (CTX) is a rare hereditary autosomal recessive disease caused by the mutations in the CYP27A1 gene, that cause a sterol deficiency of the 27-hydroxylase enzyme involved in the synthesis of bile acids. (amedi.sk)

Neuropathy with liability to pressure1

• Haplo-insufficiency of PMP22 causes hereditary neuropathy with liability to pressure palsies (HNPP) 4 . (biorxiv.org)

Spinal cord3

• The peripheral nervous system sends information from the brain and spinal cord, also called the central nervous system, to the rest of the body through motor nerves. (mayoclinic.org)
• The peripheral nervous system refers to parts of the nervous system outside the brain and spinal cord. (msdmanuals.com)
• Commonly known as Lou Gehrig's disease, ALS is a progressive neurodegenerative disease that primarily affects motor neurons in the brain and spinal cord. (gshs.org)

Neurologic2

• Azorean neurologic disease is one of the 40 types of spinocerebellar ataxia (SCA). (brainandnervecenter.com)
• Neurologic symptoms vary greatly because the nervous system controls many different body functions. (merckmanuals.com)

Ataxia3

• An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. (nih.gov)
• Autosomal recessive spinocerebellar ataxia 13 (SCAR13) is a neurological disease characterized by psychomotor delay, mild to profound intellectual disability with poor or absent language, nystagmus, stance ataxia, and, if walking is acquired, gait ataxia. (bvsalud.org)
• Most individuals with PLP1 duplications present with classic Pelizaeus-Merzbacher disease, typified by nystagmus that begins in the first year of life, delayed motor and cognitive milestones, and ataxia. (medscape.com)

Spastic paraparesis2

• Diagnostic criteria for HSP included (i) spastic paraparesis or spastic tetraparesis with legs earlier and more severely affected than arms or (ii) spastic paraparesis as early and prominent sign of a neurodegenerative multisystem disease after exclusion of other causes. (biomedcentral.com)
• To exclude secondary forms of spastic paraparesis standard diagnostic procedures covered MRI of head and spine, vitamin B12 and folic acid levels, very long chain fatty acids (VLCFA), neurometabolic screening (Krabbe disease, metachromatic leukodystrophy, GM1-gangliosidosis, GM2-gangliosidoses Tay Sachs and Sandhoff, Gaucher disease) and cerebrospinal fluid analysis. (biomedcentral.com)

Autonomic nervou1

• The autonomic nervous system regulates physiologic processes. (merckmanuals.com)

Neurological disease2

• Oral examination.The oral exam covers all the aspects of the theory of neurological disease. (unicampania.it)
• Pediatric neurologists treat neurological disease in children. (wikidoc.org)

Acute3

• CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)
• It can be the initial demyelinating event in up to 20% of patients, and occurs in almost half of patients with MS.1 ON associated with demyelinating disease is generally characterized by acute to subacute, painful, and monocular vision loss. (clevelandclinic.org)
• C1-inh is approved for therapy of hereditary angioedema (HAE) and has been studied in a small safety trial in acute NMO relapses (NCT 01759602). (chaen-rcah.ca)

Angioedema1

• Here, we provide an overview of the complement pathways and summarize recent literature related to hereditary and acquired angioedema, infectious diseases, autoimmunity, and age-related macular degeneration. (clinlabint.com)

Humans1

• Candidate Genes: Not enough evidence in humans, but potentially associated with the disease. (healthincode.com)

Neuromyelitis1

• Neuromyelitis optica (NMO) is an autoimmune demyelinating disease of the central nervous system in which binding of anti-aquaporin-4 (AQP4) autoantibodies (NMO-IgG) to astrocytes causes complement-dependent cytotoxicity (CDC) and inflammation resulting in oligodendrocyte and neuronal injury. (chaen-rcah.ca)

Cerebellar1

• Cerebellar degeneration with Hodgkin disease: an immunological study. (jamanetwork.com)

Symptoms8

• Typically, a predilection exists for distal limbs as the site of disease onset and more severe symptoms and signs. (medscape.com)
• Moreover, the student must have a deep knowledge of the most common neurological diseases- being able to connect symptoms and signs with diseases. (unicampania.it)
• They do not indicate the underlying disease process and normal findings do not exclude an organic basis for symptoms. (medscape.com)
• In addition to a wide range of neurological symptoms, signs of damage of other organ systems can be observed, some of them in childhood. (amedi.sk)
• other tests may be done to rule out other diseases that may cause similar symptoms. (medicinenet.com)
• symptoms may reflect deficits in any part of the nervous system. (merckmanuals.com)
• Vision loss, muscular weakness, muscle spasms, loss of coordination, discomfort, and disturbances in bladder and bowel movement are all frequent symptoms of MS and other demyelinating illnesses. (a2zfitnessmart.com)
• Ménière disease, recurrent and generally progressive group of symptoms that include loss of hearing, ringing in. (britannica.com)

Motor nerves3

• 38 m/s in upper limb motor nerves) in peripheral demyelinating neuropathy such as CMT1 and CMT4. (cmt.org.uk)
• The immune system mistakenly targets and attacks the motor nerves, resulting in damage and impaired functioning. (gshs.org)
• This condition occurs when the immune system mistakenly attacks multiple motor nerves. (gshs.org)

Degeneration1

• Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. (biomedcentral.com)

Syndrome1

• AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)

Differential diagnosis1

• The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. (cdc.gov)

Polyneuropathy1

• Also, some cancers related to the body's immune system can cause polyneuropathy. (mayoclinic.org)

Amyotrophic Lateral S1

• In this section, we will discuss some of the most common forms of motor neuropathy, including amyotrophic lateral sclerosis (ALS) , multifocal motor neuropathy (MMN) , primary lateral sclerosis, spinal muscular atrophy, and Kennedy's disease. (gshs.org)

Diagnostic1

• Seropositive Devic's disease, according to the diagnostic criteria described above. (mdwiki.org)

Infectious2

• certain localized infections Note: Categories for "late effects" of infectious and parasitic diseases are to be found at 137. (cdc.gov)
• myxomatosis, a highly fatal infectious viral disease of rabbits. (britannica.com)

Nerve3

• In TT disease, thickening is usually confined to 1 nerve. (medscape.com)
• Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)
• Every nerve in the peripheral system has a specific job. (mayoclinic.org)

Genetic8

• A hereditary CNS demyelinating disease is a demyelinating central nervous system disease that is primarily due to an inherited genetic condition. (wikipedia.org)
• Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. (annaly-nevrologii.com)
• Charcot-Marie-Tooth disease subtypes and genetic testing strategies. (annaly-nevrologii.com)
• Idiopathic basal ganglia calcification is a hereditary, genetic condition marked by abnormal calcium deposits in parts of the brain that regulate movement. (brainandnervecenter.com)
• In certain circumstances, you may note disease-causing genetic changes. (a2zfitnessmart.com)
• There are approximately 5,000 to 8,000 distinct uncommon diseases, most of which have a genetic basis. (a2zfitnessmart.com)
• Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center. (cdc.gov)
• Families with confirmed Pelizaeus-Merzbacher disease must be referred to a geneticist or neurogeneticist for education about the disease and, especially, for genetic counseling. (medscape.com)

Infections1

• Opthalmoneuromyelitis, also known as Devic disease, is an acquired condition triggered by autoimmune reactions and certain microbial infections. (brainandnervecenter.com)

Clinically1

• Clinically, patients typically describe central (less commonly arcuate, cecocentral, or hemianopic) vision loss that progresses over hours to days. (clevelandclinic.org)