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Article

A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.

Journal of the neurological sciences - 15 Mar 2016

Liu L, Li X B, Zi X H, Shen L, Hu Zh M, Huang Sh X, Yu D L, Li H B, Xia K, Tang B S, Zhang R X

Abstract excerpt

The array of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has expanded worldwide after the first description in the Charlevoix-Saguenay region of Québec. Here, we report a Chinese ARSACS patient presenting progressive peripheral neuropathy (CMTNS2=15) with horizontal gaze nystagmus and mild spastic gait. Genetic studies including whole exome sequencing (WES), Sanger sequencing and single...

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Identifiers

PMID: 26944128
DOI: 10.1016/j.jns.2016.01.026

Genes

SACS

Variants

Provenance

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