“Charlevoix–Saguenay Spastic Ataxia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (SACS)

ICD10 Code = G11.1

沙勒瓦-薩格奈痙攣性共濟失調

Genomic coordinate (human 13:23,308,832 SACS).

Cytoband (human 13q12.12 SACS).

OMIM’ genes @ 13q12.12 = 4 genes.

ClinVar = 4,292 SACS variants reported.

PANTHER Classification is PTHR15600 “sacsin molecular chaperone”.

Cytoband Structure:  WCWCCWG6BGBGB2GB2

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Here I 🎁 present: “Charlevoix–Saguenay Spastic Ataxia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SACS)

INTRODUCTION

Charlevoix-Saguenay Spastic Ataxia (SACS) is an autosomal recessive complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy.