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Spinocerebellar atrophy
- ... 40 repeats or more). Olivopontocerebellar atrophy I SCA1 Spinocerebellar atrophy I Type 1 spinocerebellar ataxia Genetic Testing Registry: Spinocerebellar ataxia type 1 ...
- ... indicate that ITPR1 gene mutations that cause the spinocerebellar ataxias affect different regions of the protein than do ... and symptoms among Gillespie syndrome and the various spinocerebellar ataxias. IP3R IP3R1 Tests of ITPR1 PubMed SPINOCEREBELLAR ATAXIA ...
- ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
- ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ...
- ... TPP1 gene have also been found to cause spinocerebellar ataxia, autosomal ... loss of cells (atrophy) of various parts of the brain, particularly within ...
- Spinocerebellar ataxia type 36 ... swallowing liquids. As the condition progresses, individuals with SCA36 develop ...
- ... National Organization for Rare Disorders (NORD) ... Citation on PubMed
- ... syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in ... hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, ...
- Infantile-onset ... caused by nerve damage (sensorineural hearing loss) typically occurs during ...
- Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder ...