Title: Early Onset Spinocerebellar Ataxia Type 2 from South India: A Case Report
Authors: Suraj Menon M, Shaji CV, Kabeer KA, Ram Mohan K
DOI: http://dx.doi.org/10.18535/jmscr/v4i4.62
Abstract
Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant ataxia characterized by progressive cerebellar ataxia, slow saccades, pyramidal findings and parkinsonism, caused by triplet CAG/CTG expansion in the ATX2 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 without extrapyramidal features or family history of ataxia. This case highlights the varied presentations of SCA’s and the significance of genetic testing for ataxias.
Keywords- SCA2, spinocerebellar ataxias, sporadic ataxia, CAG triplet repeat expansion
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