Article

Spinocerebellar ataxia type 12: An update

2019-01-01

Abstract excerpt

Spinocerebellar ataxia type 12 (SCA12) is a progressive neurological disorder with a unique prevalence in North Indian population. Trinucleotide CAG repeat expansion beyond certain threshold (>43 repeats) in the upstream region of PPP2R2B gene is associated with cerebello-cortical atrophy in disease affected individuals. Patients with SCA12 predominantly manifest unique distinguishable feature of early slow and pr...

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Literature Corpus work: c50d1ba0-47d3-5219-9268-b167238d2071
DOI: 10.4103/aomd.aomd_5_19

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