An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Proteins that specifically bind to IRON.
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.
An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.
A group of proteins possessing only the iron-sulfur complex as the prosthetic group. These proteins participate in all major pathways of electron transport: photosynthesis, respiration, hydroxylation and bacterial hydrogen and nitrogen fixation.
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
An enzyme that catalyzes the reversible hydration of cis-aconitate to yield citrate or isocitrate. It is one of the citric acid cycle enzymes. EC 4.2.1.3.
A group of enzymes that transfers a phosphate group onto an alcohol group acceptor. EC 2.7.1.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
A lipid-soluble benzoquinone which is involved in ELECTRON TRANSPORT in mitochondrial preparations. The compound occurs in the majority of aerobic organisms, from bacteria to higher plants and animals.
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
Deacetylases that remove N-acetyl groups from amino side chains of the amino acids of HISTONES. The enzyme family can be divided into at least three structurally-defined subclasses. Class I and class II deacetylases utilize a zinc-dependent mechanism. The sirtuin histone deacetylases belong to class III and are NAD-dependent enzymes.
Compounds that inhibit HISTONE DEACETYLASES. This class of drugs may influence gene expression by increasing the level of acetylated HISTONES in specific CHROMATIN domains.
A histone deacetylase subtype that is found along with HISTONE DEACETYLASE 2; RETINOBLASTOMA-BINDING PROTEIN 4; and RETINOBLASTOMA-BINDING PROTEIN 7 as core components of histone deacetylase complexes.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.

Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. (1/351)

Respiratory chain dysfunction has been identified in several neurodegenerative disorders. In Friedreich's ataxia (FA) and Huntington's disease (HD), where the respective mutations are in nuclear genes encoding non-respiratory chain mitochondrial proteins, the defects in oxidative phosphorylation are clearly secondary. In Parkinson's disease (PD) the situation is less clear, with some evidence for a primary role of mitochondrial DNA in at least a proportion of patients. The pattern of the respiratory chain defect may provide some clue to its cause; in PD there appears to be a selective complex I deficiency; in HD and FA the deficiencies are most severe in complex II/III with a less severe defect in complex IV. Aconitase activity in HD and FA is severely decreased in brain and muscle, respectively, but appears to be normal in PD brain. Free radical generation is thought to be of importance in both HD and FA, via excitotoxicity in HD and abnormal iron handling in FA. The oxidative damage observed in PD may be secondary to the mitochondrial defect. Whatever the cause(s) and sequence of events, respiratory chain deficiencies appear to play an important role in the pathogenesis of neurodegeneration. The mitochondrial abnormalities induced may converge on the function of the mitochondrion in apoptosis. This mode of cell death is thought to play an important role in neurodegenerative diseases and it is tempting to speculate that the observed mitochondrial defects in PD, HD and FA result directly in apoptotic cell death, or in the lowering of a cell's threshold to undergo apoptosis. Clarifying the role of mitochondria in pathogenesis may provide opportunities for the development of treatments designed to reverse or prevent neurodegeneration.  (+info)

Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families. (2/351)

The main mutation causing Friedreich ataxia (FRDA) is the expansion of a GAA repeat localized within the intron between exon 1 and exon 2 of the gene X25. This expansion has been observed in 98% of FRDA chromosomes. To analyze frequencies of markers tightly linked to the Friedreich ataxia gene and to investigate wheter a limited number of ancestral chromosomes are shared by German FRDA families, a detailed analysis employing nine polymorphic markers was performed. We found strong linkage disequilibria and association of FRDA expansions with a few haplotypes. FRDA haplotypes differ significantly from control haplotypes. Our results confirm that GAA repeat expansions in intron 1 of the frataxin gene are limited to a few chromosomes and indicate an obvious founder effect in German patients. Based on these analyses, we estimate a minimum age of the mutation of 107 generations.  (+info)

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. (3/351)

A novel DNA structure, sticky DNA, is described for lengths of (GAA.TTC)n found in intron 1 of the frataxin gene of Friedreich's ataxia patients. Sticky DNA is formed by the association of two purine.purine.pyrimidine (R.R.Y) triplexes in negatively supercoiled plasmids at neutral pH. An excellent correlation was found between the lengths of (GAA.TTC) (> 59 repeats): first, in FRDA patients, second, required to inhibit transcription in vivo and in vitro, and third, required to adopt the sticky conformation. Fourth, (GAAGGA.TCCTTC)65, also found in intron 1, does not form sticky DNA, inhibit transcription, or associate with the disease. Hence, R.R.Y triplexes and/or sticky DNA may be involved in the etiology of FRDA.  (+info)

Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae. (4/351)

Friedreich's ataxia (FRDA) is a neurodegenerative disease typically caused by a deficiency of frataxin, a mitochondrial protein of unknown function. In Saccharomyces cerevisiae, lack of the yeast frataxin homolog ( YFH1 gene, Yfh1p polypeptide) results in mitochondrial iron accumulation, suggesting that frataxin is required for mitochondrial iron homeostasis and that FRDA results from oxidative damage secondary to mitochondrial iron overload. This hypothesis implies that the effects of frataxin deficiency could be influenced by other proteins involved in mitochondrial iron usage. We show that Yfh1p interacts functionally with yeast mitochondrial intermediate peptidase ( OCT1 gene, YMIP polypeptide), a metalloprotease required for maturation of ferrochelatase and other iron-utilizing proteins. YMIP is activated by ferrous iron in vitro and loss of YMIP activity leads to mitochondrial iron depletion, suggesting that YMIP is part of a feedback loop in which iron stimulates maturation of YMIP substrates and this in turn promotes mitochondrial iron uptake. Accordingly, YMIP is active and promotes mitochondrial iron accumulation in a mutant lacking Yfh1p ( yfh1 [Delta]), while genetic inactivation of YMIP in this mutant ( yfh1 [Delta] oct1 [Delta]) leads to a 2-fold reduction in mitochondrial iron levels. Moreover, overexpression of Yfh1p restores mitochondrial iron homeostasis and YMIP activity in a conditional oct1 ts mutant, but does not affect iron levels in a mutant completely lacking YMIP ( oct1 [Delta]). Thus, we propose that Yfh1p maintains mitochondrial iron homeostasis both directly, by promoting iron export, and indirectly, by regulating iron levels and therefore YMIP activity, which promotes mitochondrial iron uptake. This suggests that human MIP may contribute to the functional effects of frataxin deficiency and the clinical manifestations of FRDA.  (+info)

Hypertrophic cardiomyopathy in Friedreich's ataxia. (5/351)

The cardiac findings in two sibs with Friedreich's ataxia are described. The clinical signs were suggestive of hypertrophic obstructive cardiomyopathy. During left heart catheterization a systolic pressure gradient across the left ventricular outflow tract could be provoked by an infusion of isoprenaline. Left ventricular angiocardiograms and echocardiograms showed gross thickening of the interventricular septum. In one patient a systolic anterior movement of the anterior leaflet of the mitral valve was seen. The importance of serial echocardiographic examination for patients with Friedreich's ataxia is emphasized.  (+info)

A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings. (6/351)

A family with pseudodominant Friedreich's ataxia is described showing marked variation of phenotype between affected siblings. The mother of this family (III-3) developed a spastic ataxic tetraplegia with neuropathy at 34 years of age; her husband, who was unrelated, was clinically normal. Of their nine children, two (IV-2, IV-3), including one with multiple sclerosis (IV-3), developed a mild spinocerebellar degeneration in the third decade. Three in their late 20s had an asymptomatic spinocerebellar degeneration (IV-4, IV-5, IV-6) and one was confined to a wheelchair at 15 years with typical Friedreich's ataxia (IV-9). Three other siblings (IV-1, IV-7, IV-8) were clinically normal. The father proved to be heterozygous for the triplet repeat expansion at the Friedreich's ataxia locus and all clinically affected members were homozygous for alleles in the expanded size range. This family confirms that homozygote-heterozygote mating is the genetic basis for some families with apparent autosomal dominant Friedreich's ataxia.  (+info)

Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. (7/351)

Frataxin is a nuclear-encoded mitochondrial protein which is deficient in Friedreich's ataxia, a hereditary neurodegenerative disease. Yeast mutants lacking the yeast frataxin homologue (Yfh1p) show iron accumulation in mitochondria and increased sensitivity to oxidative stress, suggesting that frataxin plays a critical role in mitochondrial iron homeostasis and free radical toxicity. Both Yfh1p and frataxin are synthesized as larger precursor molecules that, upon import into mitochondria, are subject to two proteolytic cleavages, yielding an intermediate and a mature size form. A recent study found that recombinant rat mitochondrial processing peptidase (MPP) cleaves the mouse frataxin precursor to the intermediate but not the mature form (Koutnikova, H., Campuzano, V., and Koenig, M. (1998) Hum. Mol. Gen. 7, 1485-1489), suggesting that a different peptidase might be required for production of mature size frataxin. However, in the present study we show that MPP is solely responsible for maturation of yeast and human frataxin. MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to mature size protein. In this way, MPP could influence frataxin function and indirectly affect mitochondrial iron homeostasis.  (+info)

Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain. (8/351)

Deletion of the yeast frataxin homologue, YFH1, elicits accumulation of iron in mitochondria and mitochondrial defects. We report here that in the presence of an iron chelator in the culture medium, the concentration of iron in mitochondria is the same in wild-type and YFH1 deletant strains. Under these conditions, the activity of the respiratory complexes is restored. However, the activity of the mitochondrial aconitase, a 4Fe-4S cluster-containing protein, remains low. The frataxin family bears homology to a bacterial protein family which confers resistance to tellurium, a metal closely related to sulfur. Yfh1p might control the synthesis of iron-sulfur clusters in mitochondria.  (+info)

Friedreich Ataxia is a genetic disorder that affects the nervous system and causes issues with movement. It is characterized by progressive damage to the nerves (neurons) in the spinal cord and peripheral nerves, which can lead to problems with muscle coordination, gait, speech, and hearing. The condition is also associated with heart disorders, diabetes, and vision impairment.

Friedreich Ataxia is caused by a mutation in the FXN gene, which provides instructions for making a protein called frataxin. This protein plays a role in the production of energy within cells, particularly in the mitochondria. The mutation in the FXN gene leads to reduced levels of frataxin, which can cause nerve damage and other symptoms associated with Friedreich Ataxia.

The condition typically begins in childhood or early adulthood and progresses over time, often leading to significant disability. There is currently no cure for Friedreich Ataxia, but treatments are available to help manage the symptoms and improve quality of life.

Iron-binding proteins, also known as transferrins, are a type of protein responsible for the transport and storage of iron in the body. They play a crucial role in maintaining iron homeostasis by binding free iron ions and preventing them from participating in harmful chemical reactions that can produce reactive oxygen species (ROS) and cause cellular damage.

Transferrin is the primary iron-binding protein found in blood plasma, while lactoferrin is found in various exocrine secretions such as milk, tears, and saliva. Both transferrin and lactoferrin have a similar structure, consisting of two lobes that can bind one ferric ion (Fe3+) each. When iron is bound to these proteins, they are called holo-transferrin or holo-lactoferrin; when they are unbound, they are referred to as apo-transferrin or apo-lactoferrin.

Iron-binding proteins have a high affinity for iron and can regulate the amount of free iron available in the body. They help prevent iron overload, which can lead to oxidative stress and cellular damage, as well as iron deficiency, which can result in anemia and other health problems.

In summary, iron-binding proteins are essential for maintaining iron homeostasis by transporting and storing iron ions, preventing them from causing harm to the body's cells.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Trinucleotide repeats refer to a specific type of DNA sequence expansion where a particular trinucleotide (a sequence made up of three nucleotides) is repeated multiple times. In normal genomic DNA, these repeats are usually present in a relatively stable and consistent range. However, when the number of repeats exceeds a certain threshold, it can result in an unstable genetic variant known as a trinucleotide repeat expansion.

These expansions can occur in various genes and are associated with several neurogenetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the trinucleotide repeat tends to expand further in subsequent generations, which can lead to anticipation – an earlier age of onset and increased severity of symptoms in successive generations.

The most common trinucleotide repeats involve CAG (cytosine-adenine-guanine) or CTG (cytosine-thymine-guanine) repeats, although other combinations like CGG, GAA, and GCT can also be involved. These repeat expansions can result in altered gene function, protein misfolding, aggregation, and toxicity, ultimately leading to the development of neurodegenerative diseases and other clinical manifestations.

The Babinski reflex, also known as the plantar reflex, is a physiological response that originates from the spinal cord when the sole of the foot is stimulated. It is named after Joseph François Felix Babinski, a French neurologist who described it in 1896.

In a normal, healthy adult, this stimulation typically results in the downward flexion of the big toe and the fanning out of the other toes. However, in infants and young children, as well as in some individuals with certain neurological conditions, the opposite response may occur - the big toe extends upward (dorsiflexes) while the other toes fan out. This is known as the Babinski reflex and can be a sign of damage to the brain or spinal cord, particularly to the nerve pathways that run from the cortex to the spinal cord.

It's important to note that the presence of an extensor plantar response (Babinski reflex) in adults is considered abnormal and may indicate a neurological disorder such as a brain injury, spinal cord injury, multiple sclerosis, or motor neuron disease. However, it's worth mentioning that certain medications, intoxication, or temporary conditions like sleep deprivation can also cause an abnormal plantar response, so further evaluation is necessary to confirm any diagnosis.

DNA repeat expansion is a genetic alteration in which a particular sequence of DNA base pairs is repeated multiple times. In normal genes, these repeats are relatively short and stable, but in certain diseases, the number of repeats can expand beyond a threshold, leading to changes in the structure or function of the gene. This type of mutation is often associated with neurological and neuromuscular disorders, such as Huntington's disease, myotonic dystrophy, and fragile X syndrome. The expanded repeats can also be unstable and may increase in size over generations, leading to more severe symptoms or earlier age of onset.

Iron-sulfur proteins are a group of metalloproteins that contain iron and sulfur atoms in their active centers. These clusters of iron and sulfur atoms, also known as iron-sulfur clusters, can exist in various forms, including Fe-S, 2Fe-2S, 3Fe-4S, and 4Fe-4S structures. The iron atoms are coordinated to the protein through cysteine residues, while the sulfur atoms can be in the form of sulfide (S2-) or sulfane (-S-).

These proteins play crucial roles in many biological processes, such as electron transfer, redox reactions, and enzyme catalysis. They are found in various organisms, from bacteria to humans, and are involved in a wide range of cellular functions, including energy metabolism, photosynthesis, nitrogen fixation, and DNA repair.

Iron-sulfur proteins can be classified into several categories based on their structure and function, such as ferredoxins, Rieske proteins, high-potential iron-sulfur proteins (HiPIPs), and radical SAM enzymes. Dysregulation or mutations in iron-sulfur protein genes have been linked to various human diseases, including neurodegenerative disorders, cancer, and mitochondrial disorders.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

Aconitate hydratase is an enzyme that catalyzes the reversible conversion of citrate to isocitrate in the Krebs cycle (also known as the tricarboxylic acid cycle or TCA cycle), which is a central metabolic pathway in the cell. This enzyme is also called aconitase or aconitate dehydratase.

The reaction catalyzed by aconitate hydratase involves two steps: first, the removal of a water molecule from citrate to form cis-aconitate; and second, the addition of a water molecule to cis-aconitate to form isocitrate. The enzyme binds to the substrate in such a way that it stabilizes the transition state between citrate and cis-aconitate, making the reaction more favorable.

Aconitate hydratase plays an important role in energy metabolism, as it helps generate NADH and FADH2, which are used to produce ATP through oxidative phosphorylation. Additionally, aconitate hydratase has been implicated in various diseases, including neurodegenerative disorders, cancer, and bacterial infections.

Human chromosome pair 9 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. The two chromosomes in a pair are identical or very similar to each other in terms of their size, shape, and genetic makeup.

Chromosome 9 is one of the autosomal chromosomes, meaning that it is not a sex chromosome (X or Y) and is present in two copies in all cells of the body, regardless of sex. Chromosome 9 is a medium-sized chromosome, and it is estimated to contain around 135 million base pairs of DNA and approximately 1200 genes.

Chromosome 9 contains several important genes that are associated with various human traits and diseases. For example, mutations in the gene that encodes the protein APOE on chromosome 9 have been linked to an increased risk of developing Alzheimer's disease. Additionally, variations in the gene that encodes the protein EGFR on chromosome 9 have been associated with an increased risk of developing certain types of cancer.

Overall, human chromosome pair 9 plays a critical role in the development and function of the human body, and variations in its genetic makeup can contribute to a wide range of traits and diseases.

Spinocerebellar ataxias (SCAs) are a group of genetic disorders that affect the cerebellum, which is the part of the brain responsible for coordinating muscle movements. SCAs are characterized by progressive problems with balance, speech, and coordination. They are caused by mutations in various genes that result in the production of abnormal proteins that accumulate in neurons, leading to their degeneration.

There are over 40 different types of SCAs, each caused by a different genetic mutation. Some of the more common types include SCA1, SCA2, SCA3, SCA6, and SCA7. The symptoms and age of onset can vary widely depending on the type of SCA.

In addition to problems with coordination and balance, people with SCAs may also experience muscle weakness, stiffness, tremors, spasticity, and difficulty swallowing or speaking. Some types of SCAs can also cause visual disturbances, hearing loss, and cognitive impairment. Currently, there is no cure for SCAs, but treatments such as physical therapy, speech therapy, and medications can help manage the symptoms.

Mitochondria are specialized structures located inside cells that convert the energy from food into ATP (adenosine triphosphate), which is the primary form of energy used by cells. They are often referred to as the "powerhouses" of the cell because they generate most of the cell's supply of chemical energy. Mitochondria are also involved in various other cellular processes, such as signaling, differentiation, and apoptosis (programmed cell death).

Mitochondria have their own DNA, known as mitochondrial DNA (mtDNA), which is inherited maternally. This means that mtDNA is passed down from the mother to her offspring through the egg cells. Mitochondrial dysfunction has been linked to a variety of diseases and conditions, including neurodegenerative disorders, diabetes, and aging.

Gait ataxia is a type of ataxia, which refers to a lack of coordination or stability, specifically involving walking or gait. It is characterized by an unsteady, uncoordinated, and typically wide-based gait pattern. This occurs due to dysfunction in the cerebellum or its connecting pathways, responsible for maintaining balance and coordinating muscle movements.

In gait ataxia, individuals often have difficulty with controlling the rhythm and pace of their steps, tend to veer or stagger off course, and may display a reeling or stumbling motion while walking. They might also have trouble performing rapid alternating movements like quickly tapping their foot or heel. These symptoms are usually worse when the person is tired or attempting to walk in the dark.

Gait ataxia can be caused by various underlying conditions, including degenerative neurological disorders (e.g., cerebellar atrophy, multiple sclerosis), stroke, brain injury, infection (e.g., alcoholism, HIV), or exposure to certain toxins. Proper diagnosis and identification of the underlying cause are essential for effective treatment and management of gait ataxia.

Ubiquinone, also known as coenzyme Q10 (CoQ10), is a lipid-soluble benzoquinone that plays a crucial role in the mitochondrial electron transport chain as an essential component of Complexes I, II, and III. It functions as an electron carrier, assisting in the transfer of electrons from reduced nicotinamide adenine dinucleotide (NADH) and flavin adenine dinucleotide (FADH2) to molecular oxygen during oxidative phosphorylation, thereby contributing to the generation of adenosine triphosphate (ATP), the primary energy currency of the cell.

Additionally, ubiquinone acts as a potent antioxidant in both membranes and lipoproteins, protecting against lipid peroxidation and oxidative damage to proteins and DNA. Its antioxidant properties stem from its ability to donate electrons and regenerate other antioxidants like vitamin E. Ubiquinone is synthesized endogenously in all human cells, with the highest concentrations found in tissues with high energy demands, such as the heart, liver, kidneys, and skeletal muscles.

Deficiency in ubiquinone can result from genetic disorders, aging, or certain medications (such as statins), leading to impaired mitochondrial function and increased oxidative stress. Supplementation with ubiquinone has been explored as a potential therapeutic strategy for various conditions associated with mitochondrial dysfunction and oxidative stress, including cardiovascular diseases, neurodegenerative disorders, and cancer.

Cardiomyopathies are a group of diseases that affect the heart muscle, leading to mechanical and/or electrical dysfunction. The American Heart Association (AHA) defines cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropriate ventricular hypertrophy or dilatation and frequently lead to heart failure."

There are several types of cardiomyopathies, including:

1. Dilated cardiomyopathy (DCM): This is the most common type of cardiomyopathy, characterized by an enlarged left ventricle and impaired systolic function, leading to heart failure.
2. Hypertrophic cardiomyopathy (HCM): In this type, there is abnormal thickening of the heart muscle, particularly in the septum between the two ventricles, which can obstruct blood flow and increase the risk of arrhythmias.
3. Restrictive cardiomyopathy (RCM): This is a rare form of cardiomyopathy characterized by stiffness of the heart muscle, impaired relaxation, and diastolic dysfunction, leading to reduced filling of the ventricles and heart failure.
4. Arrhythmogenic right ventricular cardiomyopathy (ARVC): In this type, there is replacement of the normal heart muscle with fatty or fibrous tissue, primarily affecting the right ventricle, which can lead to arrhythmias and sudden cardiac death.
5. Unclassified cardiomyopathies: These are conditions that do not fit into any of the above categories but still significantly affect the heart muscle and function.

Cardiomyopathies can be caused by genetic factors, acquired conditions (e.g., infections, toxins, or autoimmune disorders), or a combination of both. The diagnosis typically involves a comprehensive evaluation, including medical history, physical examination, electrocardiogram (ECG), echocardiography, cardiac magnetic resonance imaging (MRI), and sometimes genetic testing. Treatment depends on the type and severity of the condition but may include medications, lifestyle modifications, implantable devices, or even heart transplantation in severe cases.

Histone deacetylases (HDACs) are a group of enzymes that play a crucial role in the regulation of gene expression. They work by removing acetyl groups from histone proteins, which are the structural components around which DNA is wound to form chromatin, the material that makes up chromosomes.

Histone acetylation is a modification that generally results in an "open" chromatin structure, allowing for the transcription of genes into proteins. When HDACs remove these acetyl groups, the chromatin becomes more compact and gene expression is reduced or silenced.

HDACs are involved in various cellular processes, including development, differentiation, and survival. Dysregulation of HDAC activity has been implicated in several diseases, such as cancer, neurodegenerative disorders, and cardiovascular diseases. As a result, HDAC inhibitors have emerged as promising therapeutic agents for these conditions.

Histone Deacetylase Inhibitors (HDACIs) are a class of pharmaceutical compounds that inhibit the function of histone deacetylases (HDACs), enzymes that remove acetyl groups from histone proteins. Histones are alkaline proteins around which DNA is wound to form chromatin, the structure of which can be modified by the addition or removal of acetyl groups.

Histone acetylation generally results in a more "open" chromatin structure, making genes more accessible for transcription and leading to increased gene expression. Conversely, histone deacetylation typically results in a more "closed" chromatin structure, which can suppress gene expression. HDACIs block the activity of HDACs, resulting in an accumulation of acetylated histones and other proteins, and ultimately leading to changes in gene expression profiles.

HDACIs have been shown to exhibit anticancer properties by modulating the expression of genes involved in cell cycle regulation, apoptosis, and angiogenesis. As a result, HDACIs are being investigated as potential therapeutic agents for various types of cancer, including hematological malignancies and solid tumors. Some HDACIs have already been approved by regulatory authorities for the treatment of specific cancers, while others are still in clinical trials or preclinical development.

Histone Deacetylase 1 (HDAC1) is a type of enzyme that plays a role in the regulation of gene expression. It works by removing acetyl groups from histone proteins, which are part of the chromatin structure in the cell's nucleus. This changes the chromatin structure and makes it more difficult for transcription factors to access DNA, thereby repressing gene transcription.

HDAC1 is a member of the class I HDAC family and is widely expressed in various tissues. It is involved in many cellular processes, including cell cycle progression, differentiation, and survival. Dysregulation of HDAC1 has been implicated in several diseases, such as cancer, neurodegenerative disorders, and heart disease. As a result, HDAC1 is a potential target for therapeutic intervention in these conditions.

Histones are highly alkaline proteins found in the chromatin of eukaryotic cells. They are rich in basic amino acid residues, such as arginine and lysine, which give them their positive charge. Histones play a crucial role in packaging DNA into a more compact structure within the nucleus by forming a complex with it called a nucleosome. Each nucleosome contains about 146 base pairs of DNA wrapped around an octamer of eight histone proteins (two each of H2A, H2B, H3, and H4). The N-terminal tails of these histones are subject to various post-translational modifications, such as methylation, acetylation, and phosphorylation, which can influence chromatin structure and gene expression. Histone variants also exist, which can contribute to the regulation of specific genes and other nuclear processes.

The Friedreich's Ataxia Global Patient Registry is the only worldwide registry of Friedreich's ataxia patients to characterize ... "Friedreich Ataxia Fact Sheet". Archived from the original on 23 January 2019. Retrieved 10 February 2019. "Friedreich ataxia ... "CRISPR Therapeutics Receives FARA Grant to Develop Gene Editing Therapies for Friedreich's Ataxia". Friedreich's Ataxia News. ... Bürk K (2017). "Friedreich Ataxia: current status and future prospects". Cerebellum & Ataxias. 4: 4. doi:10.1186/s40673-017- ...
"Friedreich's Ataxia Research Alliance". May 2023. "The Friedreich's Ataxia Research Alliance (FARA) Announces Recipients of the ... The Friedreich's Ataxia Research Alliance (FARA) is a 501(c)(3), non-profit, tax-exempt organization formed to support the ... "Charity Navigator - Rating for Friedreich's Ataxia Research Alliance". Medical and Health Information Directory: A Guide to ... "CureFA Ride Ataxia". CureFA Ride Ataxia. Retrieved March 13, 2019. Lindskog, Chad (October 15, 2018). "Archuleta battling ...
Preliminary testing has been done in humans and found idebenone to be a safe treatment for Friedreich's ataxia (FA), exhibiting ... In 2010, early clinical trials for the treatment of Friedreich's ataxia and Duchenne muscular dystrophy have been completed. As ... Clinical trial number NCT00229632 for "Idebenone to Treat Friedreich's Ataxia" at ClinicalTrials.gov Clinical trial number ... Tonon C, Lodi R (September 2008). "Idebenone in Friedreich's ataxia". Expert Opinion on Pharmacotherapy. 9 (13): 2327-2337. doi ...
"rideATAXIA History". Friedreich's Ataxia Research Alliance. Retrieved 2018-07-31. Bryan, Atchison (2010-06-03). "Ataxia ... Friedreich's ataxia is a genetic disorder with symptoms including muscle weakness, loss of coordination, vision impairment, ... The goal of the ride was to raise awareness and research funds for Friedreich's Ataxia (FA). The first rideATAXIA took place ... "Tampa at Center of Research to Cure Friedreich's Ataxia". Rare Daily. Global Genes - Allies in Rare Disease. Retrieved 2015-05- ...
Chronic renal failure, Medline Plus Koeppen, Arnulf H.; Mazurkiewicz, Joseph E. (2013). "Friedreich Ataxia: Neuropathology ... mellitus Toxins Guillain-Barré syndrome Lyme disease Hepatitis C Amyloidosis Acromegaly Kidney failure Friedreich's Ataxia In ... ataxia, numbness, muscle wasting and paraesthesiae. Hereditary polyneuropathy - scoliosis and hammer toes The causes of ...
Delatycki, M; Williamson, R; Forrest, S (2000). "Friedreich ataxia: an overview". Journal of Medical Genetics. 37 (1): 1-8. doi ... Ehlers-Danlos syndrome Fibrodysplasia ossificans progressiva Friedreich's ataxia Frontotemporal dementia (FTD) Some ...
Wells, Robert D. (June 2008). "DNA triplexes and Friedreich ataxia". The FASEB Journal. 22 (6): 1625-1634. doi:10.1096/fj.07- ...
"Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome". ... "Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome". ... "OMIM Entry - 229310 - FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA". www.omim.org. Retrieved 2022-06-02. Combarros, O.; Calleja, J ... Congenital glaucoma Friedreich's ataxia Combarros, O.; Calleja, J.; Leno, C.; Berciano, J. (1988-01-01). " ...
Friedreich's ataxia Elgin, Sarah C.R.; Reuter, Gunter (August 2013). "Position-Effect Variegation, Heterochromatin Formation, ...
Preliminary research on the role of IFN-γ in treating Friedreich's ataxia (FA) conducted by Children's Hospital of Philadelphia ... Wells M, Seyer L, Schadt K, Lynch DR (December 2015). "IFN-γ for Friedreich ataxia: present evidence". Neurodegenerative ... March 2019). "Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia". Annals of Clinical ... July 2015). "Open-label pilot study of interferon gamma-1b in Friedreich ataxia". Acta Neurologica Scandinavica. 132 (1): 7-15 ...
A common hereditary ataxia is Friedreich's ataxia. in contrast, sporadic ataxias occur spontaneously in individuals with no ... Ataxias are often characterized by poor coordination of hand and eye movements, speech problems, and a wide-set, unsteady gait ... Possible causes of ataxias may include stroke, tumor, infection, trauma, or degenerative changes in the cerebellum. These types ... The first group, hereditary ataxias, affect the cerebellum and spinal cord and are passed from one generation to the next ...
Friedreich's ataxia is a type of ataxia that has an expanded repeat sequence GAA in the frataxin gene. The frataxin gene is ... Bürk K (2017). "Friedreich Ataxia: current status and future prospects". Cerebellum & Ataxias. 4 (1): 4. doi:10.1186/s40673-017 ... several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. Trinucleotide repeat expansions in the germline ... Many repetitive DNA sequences have been linked to human diseases such as Huntington's disease and Friedreich's ataxia. Some ...
Jourdain was partly disabled by Friedreich's ataxia. He corresponded with Georg Cantor and Gottlob Frege, and took a close ...
Friedreich's ataxia is an autosomal recessive disorder cause by a GAA expansion in the intron of the FXN gene. This gene codes ... Friedreich's ataxia is a progressive neurological disorder. Individuals experience gait and speech disturbances due to ... October 1996). "Clinical and genetic abnormalities in patients with Friedreich's ataxia". The New England Journal of Medicine. ... August 2015). "Frataxin levels in peripheral tissue in Friedreich ataxia". Annals of Clinical and Translational Neurology. 2 (8 ...
"Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion". Science. 271 (5254): 1423 ... "Visual system involvement in patients with Friedreich's ataxia". Brain. 132 (Pt 1): 116-23. doi:10.1093/brain/awn269. PMID ... Harding, A.E. (1983). "Classification of the hereditary ataxias and paraplegias". Lancet. 1 (8334): 1151-5. doi:10.1016/S0140- ... ataxia, and spasticity.[citation needed] This disease is a heterogenous group of inherited neuropathies, stemming from a MFN2 ...
Cerebellar ataxia Friedreich ataxia Harding, A. E. (1981). "Early onset cerebellar ataxia with retained tendon reflexes: a ... This form of ataxia is characterized by onset in the first 20 years, and is less severe than Friedreich ataxia. Additional ... This form of cerebellar ataxia is similar to Friedreich ataxia including that it results in poor reflexes and balance, but ... Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia". Brain. 114 (4): 1559-73. doi: ...
For charitable services to People with Friedreich's ataxia. Miss Linda Margaret Kennedy, Manager, Banqueting House, Whitehall. ...
... is indicated for the treatment of Friedreich's ataxia. Friedreich's ataxia causes progressive damage to the ... Although rare, Friedreich's ataxia is the most common form of hereditary ataxia in the United States, affecting about one in ... Omaveloxolone, sold under the brand name Skyclarys, is a medication used for the treatment of Friedreich's ataxia. It is taken ... The primary objective was to evaluate the change in the modified Friedreich's Ataxia Rating Scale (mFARS) score compared to ...
Symptoms are similar to those of Friedreich ataxia. Familial isolated vitamin E deficiency is caused by mutations in the gene ... "ataxia with vitamin E deficiency". Genetics Home Reference. Retrieved 2017-01-19. Schuelke, Markus (1993-01-01). "Ataxia with ... Schuelke, Markus (2016-10-13). "Ataxia with Vitamin E Deficiency". NCBI Bookshelf. PMID 20301419. Retrieved 2022-11-13. Ataxia ... "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia". Archives of Neurology. 59 (12): 1952-53 ...
... including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar ... Botez MI, Mayer P, Bellemare F, Couture J (August 1997). "Can we treat respiratory failure in Friedreich ataxia?". Archives of ... Botez-Marquard T, Botez MI (1997). "Olivopontocerebellar atrophy and Friedreich's ataxia: neuropsychological consequences of ... Botez MI, Young SN (May 2001). "Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias ...
1995). "Friedreich's ataxia: a defect in signal transduction?". Hum. Mol. Genet. 4 (8): 1411-9. doi:10.1093/hmg/4.8.1411. PMID ... Abnormal silencing of the PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia. GRCh38: Ensembl ... "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase". Nat Genet. 14 (2): 157-62. doi: ... "Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies". Hum. Mol. Genet. 22 ...
"TECHNOLOGICAL INNOVATIONS AND INCLUSION OF CHILDREN WITH FRIEDREICH'S ATAXIA". AMADE. Retrieved 29 October 2020. "TRANSLATION ... and tests for doctors treating Friedreich's ataxia in children and young adults. In 2019, AMADE worked with HEAL Africa to ...
Nat Genet 1997). In 1996, with Michel Koenig and Massimo Pandolfo, he showed that Friedreich's Ataxia, a neurodegenerative ... Clinical and genetic abnormalities in patients with Friedreich's ataxia. New England Journal Of Medicine, 335, 1169-1175 (1996 ... Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. ... Nature, 378, 403-406 (1995). * Ouahchi, K, […], Mandel, J.-L. and Koenig, M. Ataxia with isolated vitamin-e-deficiency is ...
"Reata Announces the Initiation of Phase 2 Studies Examining RTA 408 for the Treatment of Friedreich's Ataxia and Mitochondrial ... "RTA 408 Capsules in Patients With Friedreich's Ataxia (MOXIe)". Retrieved 6 October 2014. "RTA 408 Capsules in Patients With ... corneal endothelial cell loss associated with cataract surgery Friedreich's ataxia, and mitochondrial myopathies. Reata is also ...
Sandi, Chiranjeevi; Al-Mahdawi, Sahar; Pook, Mark A. (2013). "Epigenetics in Friedreich's Ataxia: Challenges and Opportunities ... indicative of a defect of transcription elongation in Friedreich's ataxia. The histone mark H3K36me3 can be detected in a ...
Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, ... GeneReviews/NCBI/NIH/UW entry on Friedreich Ataxia frataxin at the U.S. National Library of Medicine Medical Subject Headings ( ... Baralle M, Pastor T, Bussani E, Pagani F (Jul 2008). "Influence of Friedreich ataxia GAA noncoding repeat expansions on pre- ... Al-Mahdawi S, Pook M, Chamberlain S (Jul 2000). "A novel missense mutation (L198R) in the Friedreich's ataxia gene". Human ...
Krasilnikova, Maria M.; Mirkin, Sergei M. (1 March 2004). "Replication Stalling at Friedreich's Ataxia (GAA) n Repeats In Vivo ... "Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ... "Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast". Molecular Cell. 35 (1): 82-92. doi:10.1016/j.molcel. ... "RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication". Nucleic Acids ...
Patel PI, Isaya G (Jul 2001). "Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency". American Journal ... Accordingly, MPP deficiency was shown to be involved in Friedreich ataxia, an autossomic recessive neurodegenerative disorder ...
Patel PI, Isaya G (Jul 2001). "Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency". American Journal ... Accordingly, MPP deficiency was shown to be involved in Friedreich ataxia, an autossomic recessive neurodegenerative disorder ...
For services to the Friedreich's Ataxia Group in Northern Ireland. Dr. Anne Elizabeth Walker, Chief Executive, Springboard UK. ...
The Friedreichs Ataxia Global Patient Registry is the only worldwide registry of Friedreichs ataxia patients to characterize ... "Friedreich Ataxia Fact Sheet". Archived from the original on 23 January 2019. Retrieved 10 February 2019. "Friedreich ataxia ... "CRISPR Therapeutics Receives FARA Grant to Develop Gene Editing Therapies for Friedreichs Ataxia". Friedreichs Ataxia News. ... Bürk K (2017). "Friedreich Ataxia: current status and future prospects". Cerebellum & Ataxias. 4: 4. doi:10.1186/s40673-017- ...
Friedreich ataxia (FA) is an inherited disease that damages your nervous system. Symptoms usually begin between ages 5 and 15. ... Friedreich Ataxia (National Institute of Neurological Disorders and Stroke) * Friedreichs Ataxia (FA) (Muscular Dystrophy ... Friedreichs Ataxia (FA): Diagnosis (Muscular Dystrophy Association) * Magnetic Resonance, Functional (fMRI) -- Brain (American ... Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves ...
FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9 ... The entity was first described in 1863 by Nikolaus Friedreich, a professor of medicine in Heidelberg, Germany. ... Friedreich ataxia (FA, FRDA, FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of ... encoded search term (Friedreich Ataxia) and Friedreich Ataxia What to Read Next on Medscape ...
... as the first treatment for Friedreichs ataxia, a rare, inherited, degenerative disease that damages the nervous system, ... Although rare, Friedreichs ataxia is the most common form of hereditary ataxia in the United States, affecting about one in ... Friedreichs ataxia causes progressive damage to the spinal cord, peripheral nerves, and the brain, resulting in uncoordinated ... The primary objective was to evaluate the change in the modified Friedreichs Ataxia Rating Scale (mFARS) score compared to ...
Researchers at the University of Bristol are looking for people with an inherited neurological condition called Friedreichs ... ataxia (FA) to take part in a study into whether a stem cell therapy could be a treatment for FA. ... About Friedreichs ataxia. Friedreichs ataxia is the most common inherited ataxia in the UK. It is a degenerative disease that ... Friedreichs ataxia was first described in 1863 by Nikolaus Friedreich, a German physician. The Friedreichs ataxia gene was ...
Friedreichs Ataxia. Biogen to acquire rare disease drugmaker Reata for $7.3B ... RegenxBio and Pfizer Partner on Gene Therapy for Friedreichs Ataxia RegenxBio and Pfizer Partner on Gene Therapy for ... Larimar to respond to FDA this quarter on 15-month clinical hold of PhI Friedreichs ataxia drug ... Larimar to respond to FDA this quarter on 15-month clinical hold of PhI Friedreichs ataxia drug ...
em,KPLC,/em, s Britney Glaser talks to Sam and Sydni Dupre about Friedreichs Ataxia. ... Friedreichs Ataxia affects one in 50,000 people with the onset of symptoms typically between ages five and 15. By the early ... When both parents are carriers, each of their children has a 25 percent chance of having Friedreichs Ataxia and a 50 percent ... Katie and Shelby Dupre have scoured all of the information they can get their hands on for Friedreichs Ataxia, a debilitating ...
Ataxia UK news, Cerebellar ataxia, Cerebellar ataxia pharma news, Friedreichs ataxia, Friedreichs ataxia pharma news, Latest ... Results from PTC Therapeutics Friedreichs ataxia trial. Friedreichs ataxia, Friedreichs ataxia pharma news, Research News / ... Update from PTC Therapeutics on their MOVE-FA programme for Friedreichs ataxia. Friedreichs ataxia, Friedreichs ataxia ... Update on Novartis Gene Therapies Friedreichs ataxia Program. Friedreichs ataxia, Friedreichs ataxia pharma news, Research ...
Grant Title: Measuring ataxia in children with Friedreich ataxia. Lay summary: Friedreich ataxia (FA) impacts many aspects of ... Grant Title: Hepcidin-Ferroportin axis in Friedreichs ataxia. Lay summary: One of the open questions in Friedreich´s ataxia ( ... Grant Title: Regulation of frataxin expression - implications for Friedreichs ataxia therapy. Lay summary: Friedreichs ataxia ... Rescue of Friedreichs Ataxia cells by DNA methylation editing of the FXN gene. Lay summary: Rescue of Friedreichs Ataxia ...
I have two more children with Friedreichs ataxia and I daily wonder if and when this disease will take them away from me too. ... My son Kevin had Friedreichs ataxia (FRDA). He was diagnosed when he was a seven-year-old second grader. Clumsiness was his ... common with the diagnosis of Friedreichs ataxia. He used a wheelchair for mobility and a computer to write. ... FARAs effort to accelerate research to help my other children and the many other families coping with Friedreichs ataxia. ...
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Meet Our Friedreichs Ataxia Program Team. Our team of FA experts provides comprehensive care, from initial diagnosis and ...
The genetic defect in Friedreichs ataxia (FRDA) is the hyperexpansion of a GAA•TTC triplet in the first intron of the FXN gene ... The genetic defect in Friedreichs ataxia (FRDA) is the hyperexpansion of a GAA•TTC triplet in the first intron of the FXN gene ... Evolution of the Friedreichs ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A ... Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. J Gene Med (2003) 5:72-81. doi: ...
This report also provides a detailed analysis of the current Friedreichs ataxia marketed drugs and late-stage pipeline drugs. ... The 7 major Friedreichs ataxia markets are expected to exhibit a CAGR of 10.4% during 2023-2033. ... 10 Friedreichs Ataxia - Key Endpoints of Treatment. 11 Friedreichs Ataxia - Marketed Products. 11.1 List of Friedreichs ... 12 Friedreichs Ataxia - Pipeline Drugs. 12.1 List of Friedreichs Ataxia Pipeline Drugs Across the Top 7 Markets. 12.1.1 ...
You are here: Home / Archives for Friedreichs Ataxia. Rare Disease Day 2012 - Spread This Call To Action To Make A Difference! ... Friedreichs Ataxia, Global Genes Projec, Hemophilia, Krabbe disease, Langerhans Cell Histiocytosis, Myelin Repair Foundation, ...
1996) Friedreichs ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423- ... Friedreichs ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on ... Her father reported normal health although his two brothers had Friedreichs ataxia (FA). At her first visit, growth and ... 1997) Phenotypic correlation and intergenerational dynamics of the Friedreichs ataxia GAA trinucleotide repeat. Am J Hum Genet ...
Since FXN was shown to be involved in Friedreichs ataxia in the late 1990s, the consequence of frataxin loss of function has ... depletion is indeed an abnormal oxidative status which initiates the pathogenic mechanism underlying Friedreichs ataxia. ... Friedreichs ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous ...
... the Friedreich Ataxia Rating Scale (FARS), the International Cooperative Ataxia Rating Scale (ICARS), the Functional ... Objective To explore the progression of Friedreich ataxia by analysing the change in scores of four clinical measures ( ... A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools ... A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools ...
Friedreich Ataxia Pipeline Report is a comprehensive report on the pre-clinical and clinical stage pipeline candidates under ... 2.1 Friedreich Ataxia Drugs by Phase of Development. 2.2 Friedreich Ataxia Drugs by Mechanism of Action. 2.3 Friedreich Ataxia ... 2.1 Friedreich Ataxia Drugs by Phase of Development. 2.2 Friedreich Ataxia Drugs by Mechanism of Action. 2.3 Friedreich Ataxia ... 7. Friedreich Ataxia Market News and Developments. 7.1 Recent Friedreich Ataxia Developments. 7.2 Friedreich Ataxia Pipeline ...
The Friedreichs Ataxia Scientific Symposium: Understanding a Cure recently marked its 9th year of bringing dedicated ... FARA-USF scientific symposium advances toward treatment for Friedreichs ataxia Written by Anne DeLotto Baier · October 15, ... The Tampa Bay region is considered an epicenter for raising funds to support research for Friedreichs ataxia, or FA. This ... Tags: Charles Lockwood, FARA Energy Ball, Friedreichs Ataxia Research Alliance, hereditary, neuromuscular disease, rare ...
... mas também com quadro puro de ataxia e início tardio. A mais conhecida e comum delas é a ataxia de Friedreich (FRDA), motivo do ... mas também com quadro puro de ataxia e início tardio. A mais conhecida e comum delas é a ataxia de Friedreich (FRDA), motivo do ... but also with cases of pure ataxia e late onset.. The most known and common is Friedreich ataxia (FRDA). FRDA is caused by the ... but also with cases of pure ataxia e late onset.. The most known and common is Friedreich ataxia (FRDA). FRDA is caused by the ...
Yesterday, I had the unusually painful experience of having to bite my tongue, while listening to the story of how two people (who are currently sharing the same respite facility as myself) were asked to leave the living room of …. ...
Friedreichs Ataxia is an inherited disorder that leads to spinocerebellar degeneration due to an autosomal recessive mutation ... antioxidants (Coenzyme Q) have been shown to decrease rate of cardiac deterioration but have no effect on ataxia ... The condition presents with ataxia, cardiomyopathy, motor weakness, cavovarus foot deformity, and scoliosis usually from age 7 ...
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Friedreich Ataxia GLFRDA 9 GAA repeat Genemer Control DNA; 500 ng. 40-2027-01. Friedreich Ataxia 64 GAA Genemer Control DNA; ... Friedreichs Ataxia GAA Repeat Genotyping GeneProberTM Digoxigenin label; 110 uL. 40-2027-15FMS. Friedreichs Ataxia GScanTM V2 ... Friedreich Ataxia 110 GAA Genemer Control DNA; 500 ng. 40-2027-04. GLFRDA 125 GAA Genemer Control DNA Friedreichs Ataxia (FRDA ... GLFRDA 102 GAA Genemer Control DNA Friedreichs Ataxia (FRDA); 500 ng. 40-2027-03. ...
Friedreichs Ataxia GScanTM V2 6-FAM Kit. (20rxns); 1 Kit GLFRDA 125 GAA Genemer Control DNA Friedreichs Ataxia (FRDA); 500 ng ... Friedreich Ataxia 110 GAA Genemer Control DNA; 500 ng .normalwhite{ color:#ffffff; } Catalog No.. Product. PDF Guide. Manual. ... Friedreich Ataxia 110 GAA Genemer Control DNA; 500 ng. 500 ng. $226.00. ... Friedreichs Ataxia GScan V2 6-FAM Kit; 1 Kit ... Friedreichs Ataxia GScan TET Kit Friedreichs Ataxia GScan HEX ...
Cardiomyopathy of Friedreich ataxia. J Neurochem. 2013;126 Suppl 1:88-93.. View this article via: PubMed Google Scholar ... Friedreichs ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci. 2011;303(1-2):1-12.. View this article via ... Elucidation of the mechanism of mitochondrial iron loading in Friedreichs ataxia by analysis of a mouse mutant. Proc Natl Acad ... Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by ...
Friedreich Ataxia (FA) is the most common hereditary ataxia, occurring in 1/50,000 Caucasians. Onset of symptoms occurs prior ... Clinical and genetic abnormalities in patients with Friedreichs ataxia. NEJM 1996 *Maring J.R. Croarkin E. Presentation and ... Payne R.M. Wagner G.R. Cardiomyopathy in Friedreich ataxia: clinical findings and research. J Child Neurol 2012 ... Antioxidants and other pharmacological treatments for Friedreich ataxia. Cochrane Database Syst Rev 2012 ...
Friedreich ataxia (FA) is a rare inherited disease that causes progressive damage to your nervous system and movement problems. ... Friedreichs ataxia. What is Friedreich ataxia? Friedreich ataxia (FA) is a rare inherited disease that causes progressive ...
  • The Institutes listed below cover one or more symptoms associated with Friedreich's ataxia. (curefa.org)
  • The purpose of this study is to test the safety and preliminary efficacy of AAVrh.10hFXN to treat the cardiomyopathy associated with Friedreich's ataxia (FA). (nih.gov)
  • Friedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of coordination in the arms and legs, and impaired speech that worsens over time. (wikipedia.org)
  • FRDA affects one in 50,000 people in the United States and is the most common inherited ataxia. (wikipedia.org)
  • All individuals with FRDA develop neurological symptoms, including dysarthria and loss of lower limb reflexes, and more than 90% present with ataxia. (wikipedia.org)
  • Friedreich ataxia (FA, FRDA, FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9. (medscape.com)
  • Dear Friends, My son Kevin had Friedreich's ataxia (FRDA). (curefa.org)
  • A mais conhecida e comum delas é a ataxia de Friedreich (FRDA), motivo do presente trabalho. (ufrgs.br)
  • Embora a FRDA seja a ataxia recessiva mais comum no mundo, pouco se sabe sobre a sua ocorrência no Brasil. (ufrgs.br)
  • Os objetivos do presente estudo foram descrever as manifestações da ataxia de Friedreich entre os pacientes do Rio Grande do Sul e ajudar a esclarecer critérios de seu sucesso diagnóstico, e estimar a prevalência mínima da FRDA no Rio Grande do Sul em 2017. (ufrgs.br)
  • The USF Ataxia Research Center participates in the FA patient registry, the only worldwide registry containing demographic and clinical information on more than 2,000 patients with Friedreich's ataxia. (usf.edu)
  • Clinical and genetic abnormalities in patients with Friedreich's ataxia. (uchicago.edu)
  • Studies have demonstrated that nuclear factor erythroid-derived 2-related factor 2 (Nrf2) signaling is grossly impaired in patients with Friedreich's ataxia. (researcherprofiles.org)
  • Therefore, the ability of omaveloxolone (RTA 408) to activate Nrf2 and induce antioxidant target genes is hypothesized to be therapeutic in patients with Friedreich's ataxia. (researcherprofiles.org)
  • This 2-part study will evaluate the efficacy, safety, and pharmacodynamics of omaveloxolone (RTA 408) in the treatment of patients with Friedreich's ataxia. (researcherprofiles.org)
  • Part 1: The first part of this study will be a randomized, placebo-controlled, double-blind, dose-escalation study to evaluate the safety of omaveloxolone (RTA 408) at various doses in patients with Friedreich's ataxia. (researcherprofiles.org)
  • Part 2: The second part of this study is a randomized, placebo-controlled, double-blind, parallel-group study to evaluate the safety and efficacy of omaveloxolone (RTA 408) 150 mg in patients with Friedreich's ataxia. (researcherprofiles.org)
  • Extension: The extension will assess long-term safety and tolerability of omaveloxolone (RTA 408) in qualified patients with Friedreich's ataxia following completion of Part 1 or Part 2. (researcherprofiles.org)
  • In addition, this study will lead to the development of valid yet sensitive clinical measures crucial to outcome assessment of patients with Friedreich's Ataxia. (researcherprofiles.org)
  • Other later stage symptoms can include, cerebellar effects such as nystagmus, fast saccadic eye movements, dysmetria and loss of coordination (truncal ataxia, and stomping gait). (wikipedia.org)
  • The cerebellar ataxia is explained by loss of the lateral and ventral spinocerebellar tracts and involvement of the Clarke column, dentate nucleus, superior vermis, and dentatorubral pathways. (medscape.com)
  • Friedreich's ataxia is an autosomal recessive cerebellar ataxia caused by triplet-repeat expansions. (researcherprofiles.org)
  • The condition is named after German physician Nikolaus Friedreich, who first described it in the 1860s. (wikipedia.org)
  • The entity was first described in 1863 by Nikolaus Friedreich, a professor of medicine in Heidelberg, Germany. (medscape.com)
  • Friedreich's ataxia was first described in 1863 by Nikolaus Friedreich, a German physician. (bristol.ac.uk)
  • Friedreich's ataxia (FA) gets its name from Nikolaus Friedreich who first described the condition in 1863. (mdqld.org.au)
  • It is the most common autosomal recessive ataxia, accounting for approximately 50% of all cases of hereditary ataxia. (medscape.com)
  • Although rare, Friedreich's ataxia is the most common form of hereditary ataxia in the United States, affecting about one in every 50,000 people. (fda.gov)
  • Friedreich Ataxia (FA) is the most common hereditary ataxia , occurring in 1/50,000 Caucasians. (uchicago.edu)
  • 2014). Friedreich ataxia is the most common hereditary ataxia in Caucasians , with an estimated incidence of 1/29,000 individuals and a frequency of 1/85 carriers. (digitis.net)
  • Ruano L, Melo C, Silva MC, Coutinho P. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. (digitis.net)
  • On Friday 20th and Saturday 21st October 2023, Ataxia UK held their first ever hybrid in-person and virtual annual conference for families affected by ataxia. (ataxia.org.uk)
  • Friedreich Ataxia 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 Friedreich Ataxia between 2023 and 2030. (bharatbook.com)
  • and providing advice and resources for individuals and families affected by ataxia. (curefa.org)
  • The symptoms are broad, but consistently involve gait and limb ataxia, dysarthria and loss of lower limb reflexes. (wikipedia.org)
  • Cardinal features include progressive limb and gait ataxia, dysarthria, loss of joint position and vibration senses, absent tendon reflexes in the legs, and extensor plantar responses. (medscape.com)
  • There is progressive ataxia, dysarthria, decreased proprioception/vibration sense and muscle weakness. (bristol.ac.uk)
  • it is followed by upper-extremity ataxia, dysarthria, and paresis, particularly of the lower extremities. (msdmanuals.com)
  • DNA analysis was negative for the autosomal dominant spinocerebellar ataxia genes of types 1, 2, 3, and 6. (bmj.com)
  • Ataxia-telengiectasia - autosomal dominant , click HERE for a video of the nystagmus seen in this disorder. (uchicago.edu)
  • Hereditary ataxias may be autosomal recessive or autosomal dominant. (msdmanuals.com)
  • Spinocerebellar ataxias (SCAs) are the main autosomal dominant ataxias. (msdmanuals.com)
  • Kevin developed scoliosis (curvature of the spine) and the enlarged heart (hypertrophic cardiomyopathy) common with the diagnosis of Friedreich's ataxia. (curefa.org)
  • When I started experiencing unexplained balance issues, I sought medical answers, which led to a Friedreich's Ataxia (FA) diagnosis. (teamkendall.org)
  • The study has been funded by the University's Elizabeth Blackwell Institute for Health Research (EBI) and the ataxia charities FARA and Ataxia UK . (bristol.ac.uk)
  • The Friedreich Ataxia Research Association (fara) Australia - fara Australia is a not for profit organization that raises funds through corporate partnerships and community fundraising in Australia and New Zealand to support biomedical research into treatments and a cure for FA. (curefa.org)
  • This year's 10th F riedreich's Ataxia Research Alliance (FARA) Energy Ball, held Saturday, Sept. 29, following the symposium and the association's international FA biomarkers meeting, raised a total of $2.5 million to help bridge the gap between discoveries and treatment. (usf.edu)
  • Hosted by FARA and the USF Ataxia Research Center, the scientific symposium drew an audience of 700 - both live at the USF Health Center for Advanced Medical Learning and Simulation (CAMLS) and viewing the event in real-time through YouTube. (usf.edu)
  • The Friedreich's Ataxia Research Alliance (FARA) is a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to curing Friedreich's ataxia (FA) through research. (charitynavigator.org)
  • If you are interested in hosting a viewing party or a theater screening of The Ataxian to benefit the Friedreich's Ataxia Research Alliance (FARA), please click this planning guide . (curefa.org)
  • Friedreich ataxia is an inherited disease that damages your nervous system. (medlineplus.gov)
  • FDA has approved Skyclarys (omaveloxolone) as the first treatment for Friedreich's ataxia, a rare, inherited, degenerative disease that damages the nervous system, characterized by impaired coordination and walking. (fda.gov)
  • Friedreich ataxia (FA) is a rare inherited disease that causes progressive damage to your nervous system and movement problems. (medizzy.com)
  • Ataxia is a condition of the nervous system in which movement is affected. (dramrita.com)
  • Friedreich's Ataxia (FA) is a rare recessive neuromuscular genetic disease that causes progressive damage to the central nervous system, resulting in a wide variety of symptoms, including gait disturbance, slowed and slurred speech, decreased dexterity, heart disease, scoliosis, and diabetes. (teamkendall.org)
  • Available at: http://mdausa.org/disease/friedreichs-ataxia. (cvs.com)
  • Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Friedreichs-Ataxia-Information-Page. (cvs.com)
  • Team Kendall, Our mission is to share hope, raise awareness, and contribute to the efforts to CURE FRIEDREICHS ATAXIA! (teamkendall.org)
  • Friedreich ataxia is a rare, inherited disease that worsens over time. (cvs.com)
  • Lauren Gaczhias covers Friedreich Ataxia (FA), a neuromuscular disorder that affects the body's nerves and muscle movements. (rarediseaseadvisor.com)
  • The report provides in-depth information on the Friedreich Ataxia clinical trials of each pipeline product. (bharatbook.com)
  • Ataxia Instrumented Measure (tool to measure progression of ataxia, based in activities of daily life (ADL), suitable for use with non-ambulatory ataxians) - devices already being used in clinical trials in parallel with FARS. (fan.asn.au)
  • This project is a global, multicenter, prospective, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia. (researcherprofiles.org)
  • A hallmark of Friedreich's ataxia is impairment of antioxidative defense mechanisms, which play a major role in disease progression. (researcherprofiles.org)
  • This research study is testing body-worn sensors to measure movement during simple tests of coordination, in order to evaluate the progression and severity of ataxia. (researcherprofiles.org)
  • People with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. (medlineplus.gov)
  • Friedreich's Ataxia affects one in 50,000 people with the onset of symptoms typically between ages five and 15. (kplctv.com)
  • Symptoms vary with the cause but typically include ataxia (impaired muscle coordination). (msdmanuals.com)
  • 2002). Anticipation, consisting of early-onset and/or more severe disease in subsequent generations, is a characteristic phenomenon of ataxias. (digitis.net)
  • Friedreich ataxia is a relatively common disorder. (medscape.com)
  • Friedreich ataxia is a progressive disorder with significant morbidity. (medscape.com)
  • Katie and Shelby Dupre have scoured all of the information they can get their hands on for Friedreich's Ataxia, a debilitating, life-shortening, neuro-muscular disorder. (kplctv.com)
  • Friedreich's Ataxia is an inherited disorder that leads to spinocerebellar degeneration due to an autosomal recessive mutation in the frataxin gene. (orthobullets.com)
  • Decreased expression of the mitochondrial protein frataxin is the cause of the neurodegenerative disorder Friedreich's ataxia . (bvsalud.org)
  • In order to combat Friedreich ataxia , which is a potentially toxic disorder, de novo drug discovery and design have been created utilizing the approach of compound engineering with halogens . (bvsalud.org)
  • Friedreich's ataxia affects the cerebellum, a structure in the back of the brain that helps coordinate movements, but doesn't affect mental functions of the brain. (mdqld.org.au)
  • Design Therapeutics is Biotechnology company developing DT-216, which is a potential treatment for Friedreich's ataxia (FA). (ataxia.org.uk)
  • Larimar Therapeutics is a biotechnology company developing treatments for rare conditions, including Friedreich's ataxia (FA). (ataxia.org.uk)
  • Minoryx Therapeutics, a company specializing in the development of new drugs for orphan diseases, today announces that it has received approval from the Spanish Agency of Medicines and Medical Devices (AEMPS) to launch a phase 2 clinical trial in Friedreich's Ataxia with its lead candidate, MIN-102. (kurmapartners.com)
  • The Friedreich's ataxia gene was discovered in 1996, leading to better recognition of the spectrum of disease. (bristol.ac.uk)
  • Gagan's 'Spinocerebellar Ataxia' and the Professor's 'Friedreich Ataxia' have different patterns of genetic inheritance. (dramrita.com)
  • On 19th September, Euro-ataxia hosted its first webinar on gene therapy as part of a new series with Ataxia UK. (ataxia.org.uk)
  • The Friedreich's Ataxia Scientific Symposium: Understanding a Cure recently marked its 9th year of bringing dedicated scientists, clinicians, and industry partners with patients and their families to USF - all whom share a commitment to finding effective treatments and a cure for Friedreich's ataxia and related disorders. (usf.edu)
  • It is the first trial of this kind in people with Friedreich's ataxia, a currently incurable condition for which there is an urgent need to develop treatments. (bristol.ac.uk)
  • A complete pipeline review of the current treatments and therapies being developed for Friedreich Ataxia, Data, and insights into pipeline candidates including a detailed overview of the highlighted target and drug characteristics, companies, and developments are included. (bharatbook.com)
  • USF Health is one of 11 sites in Friedreich's Ataxia Collaborative Clinical Research Network, an international network of clinical research centers working together to advance treatments and clinical care for those living with FA. (usf.edu)
  • Antioxidants and other pharmacological treatments for Friedreich ataxia. (uchicago.edu)
  • Researchers at the University of Bristol are looking for people with an inherited neurological condition called Friedreich's ataxia (FA) to take part in a study into whether a stem cell therapy could be a treatment for FA. (bristol.ac.uk)
  • I live with Friedreich ataxia (FA), a neurological disease that makes it difficult for the brain to respond to sensory signals. (rarediseaseadvisor.com)
  • Friedreich's ataxia causes progressive damage to the spinal cord, peripheral nerves, and the brain, resulting in uncoordinated muscle movement, poor balance, difficulty walking, changes in speech and swallowing, and a shortened lifespan. (fda.gov)
  • The primary objective was to evaluate the change in the modified Friedreich's Ataxia Rating Scale (mFARS) score compared to placebo at week 48. (fda.gov)
  • Could stem cell therapy be an effective treatment for Friedreich's ataxia? (bristol.ac.uk)
  • In contrast to Gagan who couldn't even pronounce the full name of his disease (Spinocerebellar ataxia can be quite a tongue twister) , Professor Dandekar was almost a master of his disease - the incurable pathology, the limited treatment options, even the latest research. (dramrita.com)
  • This study aimed to investigate the potential for effective treatment of Friedreich ataxia . (bvsalud.org)
  • The development of effective medications for the treatment of Friedreich ataxia would be aided by the results of these computational investigations. (bvsalud.org)
  • Halogens engineering-based design of agonists for boosting expression of frataxin protein in Friedreich's ataxia. (bvsalud.org)
  • The primary objective of this study is to assess the long-term safety of vatiquinone in participants with Friedreich ataxia (FA) previously exposed to vatiquinone in Study PTC743-NEU-003-FA (NCT04577352) or Study PTC743-NEU-005-FA. (researcherprofiles.org)
  • The efficacy and safety of Skyclarys to treat Friedreich's ataxia was evaluated in a 48-week randomized, placebo-controlled, and double-blind study [Study 1 (NCT02255435)] and an open-label extension. (fda.gov)
  • Efficacy of rehab in hereditary ataxias - mostly complete (interrupted by covid-19). (fan.asn.au)
  • This is a Phase 1/2, open-label, dose-ascending, multicenter study of the safety and efficacy of LX2006 for participants who have Friedreich's Ataxia with evidence of cardiomyopathy. (researcherprofiles.org)
  • In Friedreich's ataxia people experience difficulty with coordination and movement. (mdqld.org.au)
  • The main symptom is ataxia, which means trouble coordinating movements. (medlineplus.gov)
  • Paul Howe, a supporter of the charity Ataxia UK and whose niece has the condition, commented: "I've watched my niece, Victoria, suffer for years with progressively worsening muscle problems throughout her body. (bristol.ac.uk)
  • Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. (bmj.com)
  • The Friedreich Ataxia condition has one of the most promising pipelines with the presence of a large number of pharmaceutical companies. (bharatbook.com)
  • The condition presents with ataxia, cardiomyopathy, motor weakness, cavovarus foot deformity, and scoliosis usually from age 7 to 25 year. (orthobullets.com)
  • This quarterly updated report provides data and critical insights into the current pipeline of therapeutic candidates in development with the potential to address Friedreich Ataxia. (bharatbook.com)
  • Driven by robust market growth prospects for Friedreich Ataxia therapeutic drugs, a large number of companies are investing in the preclinical Friedreich Ataxia pipeline. (bharatbook.com)
  • Dr Julie Greenfield, Head of Research at Ataxia UK , added: "We are delighted to be supporting this exciting research study. (bristol.ac.uk)
  • In this article, Owen Gittins, a 3rd year undergraduate student in biochemistry at the University of Cambridge, shares his journey into and involvement in Friedreich's ataxia (FA) research. (ataxia.org.uk)
  • As well, NAF supports scientific research efforts geared towards developing a cure for ataxia. (curefa.org)
  • It is my hope that telling Kevin's story will encourage others to support FARA's effort to accelerate research to help my other children and the many other families coping with Friedreich's ataxia. (curefa.org)
  • The Tampa Bay region is considered an epicenter for raising funds to support research for Friedreich's ataxia, or FA. (usf.edu)
  • National Ataxia Foundation (NAF) - NAF is a non-profit organization whose purpose is to provide programs and services for persons with ataxia and their families. (curefa.org)