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

• Autors principals: Rohan Sharma MD (Autor), Akilandeswari Aravindhan MD (Autor), Clara Puente BS (Autor), Aravindhan Veerapandiyan MD (Autor)
• Format: Llibre
• Publicat: SAGE Publishing, 2022-12-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...