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Middle childhood onset Spinocerebellar Ataxia Type 2
  • arvind vyas,
  • Mitul Kasundra
arvind vyas
SMS Medical College and Hospital
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Mitul Kasundra
SMS Medical College and Hospital

Corresponding Author:[email protected]

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Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant ataxia characterized by progressive cerebellar ataxia, slow saccades, pyramidal findings and parkinsonism, caused by triplet CAG expansion in the ATXN2 gene in chromosome 12. Age of onset is typically in the fourth decade with 10- to 15-year disease duration. We present a case of SCA2 with symptom onset within the first decade of life with extrapyramidal features and family history of ataxia. This case highlights the early presentations of SCA and the significance of genetic testing for ataxias. Keywords- SCA2, spinocerebellar ataxias, sporadic ataxia, CAG triplet repeat expansion