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Article

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Journal of investigative medicine high impact case reports - 1 Jan 2000

Sharma Rohan, Aravindhan Akilandeswari, Puente Clara, Veerapandiyan Aravindhan

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by triad of progressive cerebellar ataxia, progressive spasticity, and axonal/demyelinating peripheral neuropathy. Other manifestations include dysarthria, weakness in lower extremities and distal muscle wasting, foot deformities, retinal striation, prolapse of the mitral valve and rarely intellectual disability, hearing loss, and...

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Identifiers

PMID: 36458808
DOI: 10.1177/23247096221139670
PMCID: PMC9720799

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.PMID 36458808Read ↗

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