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Results 1 - 4 of 4 for Spinocerebellar ataxia type 13
  1. TPP1 gene 
    ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  2. ITPR1 gene 
    ... ITPR1 gene have been identified in people with spinocerebellar ataxia type 15 (SCA15), spinocerebellar ataxia type 29 (SCA29), and less commonly, in other forms ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  3. CACNA1A gene 
    ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ... CACNA1A PubMed CALCIUM CHANNEL, ... M, Lamblin MD, Andrieux J. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  4. Autosomal recessive cerebellar ataxia type 1 
    ... and symptoms of the condition. ARCA1 Autosomal recessive spinocerebellar ataxia 8 Recessive ataxia of Beauce Genetic Testing Registry: Autosomal recessive ataxia, Beauce type National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics