Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the Gene

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the Gene

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, foo...

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Bibliographic Details
Main Authors:	Rohan Sharma MD, Akilandeswari Aravindhan MD, Clara Puente BS, Aravindhan Veerapandiyan MD
Format:	Article
Language:	English
Published:	SAGE Publishing 2022-12-01
Series:	Journal of Investigative Medicine High Impact Case Reports
Online Access:	https://doi.org/10.1177/23247096221139670

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