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20-September-2008 10:08:30 - Friedreich's ataxia February 2008 Friedreich's ataxia Classification and external resources ICD-10 G11.1 ICD-9 334.0 OMIM 229300 DiseasesDB 4980 eMedicine neuro/139 MeSH D005621 Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. Ataxia, which refers to coordination problems such as clumsy or awkward movements and unsteadiness, occurs in many different diseases and conditions. The ataxia of Friedreich's ataxia results from the degeneration of nerve tissue in the spinal cord, in particular sensory neurons essential through connections with the cerebellum for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath the insular covering on some nerve cells that helps conduct nerve impulses. Delatycki et al. 2000 provided an overview of the clinical features, pathology, molecular genetics, and possible therapeutic options in Friedreich's ataxia.1 Contents 1 Eponym 2 Prevalence 3 Genetics 4 Relationship to muscular dystrophy 5 Symptoms 6 Signs 7 Pathogenesis 8 Treatment 9 See also 10 References 11 External links Eponym The condition is named after the German physician Nicholaus Friedreich, who first described it in the 1860s.2 Prevalence Friedreich's ataxia is the most prevalent inherited ataxia, affecting about 1 in 50,000 people in the United States. Males and females are affected equally. The estimated carrier prevalence is 1:110. A 1984 Canadian study was able to trace 40 cases of classical Friedreich's disease from 14 French-Canadian kindreds previously thought to be unrelated to one common ancestral couple arriving in New France in 1634: Jean Guyon and Mathurine Robin.3 About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Genetics Friedreich's ataxia has an autosomal recessive pattern of inheritance. Friedreich's ataxia has an autosomal recessive pattern of inheritance. Friedreich's ataxia is an autosomal recessive congenital ataxia and is caused by a mutation in gene FXN formerly known as X25 that codes for frataxin, located on chromosome 9. This protein is essential for proper functioning of mitochondria it has been shown to be connected with the removal of iron from the cytoplasm surrounding the mitochondria, and in the absence of frataxin, the iron builds up and causes free radical damage. Nerve and muscle cells appear to be particularly sensitive to the deleterious effects of this type of mitochondrial dysfunction. The classic form of Friedreich's ataxia has been mapped to 9q13-q21. In most cases, the mutant gene contains expanded GAA triplet repeats in the first intron; in a few pedigrees, point mutations have been detected. Because the defect is located on an intron which is removed from the mRNA transcript between transcription and translation, this mutation does not result in the production of abnormal frataxin proteins. Instead, the mutation causes gene silencing i.e., the mutation decreases the transcription of the gene through induction of a heterochromatin structure in a manner similar to position-effect variegation. The protein that is altered in Friedreich's ataxia is called frataxin. Relationship to muscular dystrophy Friedreich's ataxia and the muscular dystrophy family of neuromuscular diseases, though often compared, are different diseases. Muscular dystrophies are the result of muscle tissue degeneration and atrophy, whereas Friedreich's ataxia is the result of nerve degeneration caused by a trinucleotide repeat expansion mutation. Research on both disorders is supported by funding from the Muscular Dystrophy Association. Symptoms Symptoms typically begin sometime between the ages of 5 to 15 years, but in Late Onset FA may occur in the 20s or 30s. Symptoms include any combination, but not necessarily all of the following: Muscle weakness in the arms and legs Loss of coordination Vision impairment Hearing loss Slurred speech Curvature of the spine scoliosis High plantar arches- pes cavus deformity of the foot Diabetes Heart disorders e.g., atrial fibrillation, and resultant tachycardia fast heart rate and hypertrophic cardiomyopathy enlargement of the heart It presents before 25 years of age with progressive staggering or stumbling gait and frequent falling. Lower extremities are more severely involved. These symptoms are slow and progressive. Long-term observation shows that many patients reach a plateau in symptoms in the patient's early adulthood. Because of many of these symptoms, a person suffering from Friedrich's Ataxia may require some surgical interventions mainly for the spine and heart. Often a metal rod is inserted in the spine to help prevent or slow the progression of scoliosis. As progression occurs, assistive devices such as a cane or walker or a wheelchair are required for mobility and independence. Signs Cerebellar: Nystagmus, fast saccadic eye movements, truncal titubation, dysarthria, dysmetria. Pyramidal: absent deep tendon reflexes, extensor plantar responses, and distal weakness are commonly found. Dorsal column: Loss of vibratory and proprioceptive sensation occurs. Cardiac involvement occurs in 91% of patients, including cardiomegaly up to dilated cardiomyopathy, symmetrical hypertrophy, murmurs, and conduction defects. Median age of death is 35 years, while females have better prognosis with a 20-year survival of 100% as compared to 63% in men.citation needed 20% of cases are found in association with diabetes mellitus type 1 or 2 or pancreatic β cell dysfunction. Pathogenesis The primary site of pathology is spinal cord and peripheral nerves. Sclerosis and degeneration of dorsal root ganglion, spinocerebellar tracts, lateral corticospinal tracts, and posterior columns4. In peripheral nerves there is a loss of large myelinated fibres. Treatment The symptoms can be treated but there is no treatment for Friedrich's ataxia at this time. There are several clinical trials taking place, including one for idebenone, in the United States. Assistive Technology, such as a standing frame, can help reduce the secondary complications of prolonged use of a wheelchair. In many cases, patients experience significant heart conditions as well. These conditions, fortunately, are much more treatable, and are often countered with ACE inhibitors such as Lisinopril and other heart medications such as Digoxin. See also Ataxia References ^ Delatycki M, Williamson R, Forrest S 2000. Friedreich ataxia: an overview. J Med Genet 37 1: 1-8 As. doi:10.1136/jmg.37.1.1. PMID 10633128. ^ synd/1406 at Who Named It ^ Barbeau A, Sadibelouiz M, Roy M, Lemieux B, Bouchard JP, Geoffroy G 1984. Origin of Friedreich's disease in Quebec. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 11 4 Suppl: 506-9. PMID 6391645. ^ Delatycki M, Williamson R, Forrest S 2000. Friedreich ataxia: an overview. J Med Genet 37 1: 1-8 As. doi:10.1136/jmg.37.1.1. PMID 10633128. External links friedreichs_ataxia at NINDS FARA What is Friedreich's Ataxia? at www.cureFA.org Asks the Experts - Responses: Friedreich's Ataxia at Muscular Dystrophy Association NCBI Genes and Disease: Friedreich's ataxia at National Center for Biotechnology Information friedreich at NIH/UW GeneTests http://www.lacaf.org/en/ Canadian Association for Familial Ataxias - Claude St-Jean Foundation v d e Pathology of the nervous system, primarily CNS G00-G47, 320-349 Inflammatory Meningitis Arachnoiditis - Encephalitis - Myelitis - Encephalomyelitis Acute disseminated - Tropical spastic paraparesis - Cavernous sinus thrombosis Systemic atrophies Huntington's disease - Spinocerebellar ataxia Friedreich's ataxia, Ataxia telangiectasia, Herary spastic paraplegia - Spinal muscular atrophy: Werdnig-Hoffman - Kugelberg-Welander - Fazio-Londe - MND ALS, PMA, PBP, PP, PLS Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia/Dyskinesia Spasmodic torticollis, Meige's, Blepharospasm - Essential tremor - Myoclonus - Lafora - Chorea Choreoathetosis - Restless legs - Stiff person Other degenerative/ demyelinating diseases dementia: Alzheimer's - Pick's - Dementia with Lewy bodies - Frontotemporal lobar degeneration mitochondrial disease: Leigh's demyelinating: Multiple sclerosis - Devic's - Central pontine myelinolysis - Transverse myelitis - Marchiafava-Bignami disease - CAMFAK syndrome - Alpers' Seizure/epilepsy Focal - Generalised - Status epilepticus - Myoclonic epilepsy Headache Migraine Familial hemiplegic - Cluster - Vascular - Tension Vascular Transient ischemic attack Amaurosis fugax, Transient global amnesia Cerebrovascular disease MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke Sleep disorders Insomnia - Hypersomnia - Sleep apnea Obstructive, Ondine's curse - Narcolepsy - Cataplexy - Kleine-Levin - Circadian rhythm sleep - Delayed sleep phase - Advanced sleep phase Intracranial hypertension Hydrocephalus Normal pressure - Idiopathic intracranial hypertension Other encephalopathy Brain herniation - Cerebral edema - Reye's Other spinal cord disease Syringomyelia - Syringobulbia - Morvan's syndrome - Spinal cord compression v d e Mitochondrial diseases Myopathies MELAS - MERRF - KSS - PEO Other DAD - Friedreich's ataxia - LHON - Leigh's - NARP - MNGIE - PCD - PDHA - Pearson syndrome Retrieved from http://en..org/wiki/Friedreich%27s_ataxia Categories: Mitochondrial diseases | Neurological disorders | Genetic disorders | Autosomal recessive disordersHidden categories: Articles needing additional references from February 2008 | All articles with statements | Articles with statements since November 2007 Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Català Deutsch Español Français Italiano עברית Magyar Nederlands Polski This page was last modified on 14 August 2008, at 10:3
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