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

• Main Authors: Rohan Sharma MD (Author), Akilandeswari Aravindhan MD (Author), Clara Puente BS (Author), Aravindhan Veerapandiyan MD (Author)
• Format: Book
• Published: SAGE Publishing, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...