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Article

Clinical features of SCA36

29 Jun 2012

Abstract excerpt

OBJECTIVE: To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (nicknamed "Asidan") caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene. METHODS: We investigated the clinical, genetic, and neuropathologic characteristics of 18 patients with SCA36. We performed histologic evaluation of a muscle biopsy specimen from 1 patient with SCA36,...

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PMID: 22744658
DOI: 10.1212/wnl.0b013e318260436f

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