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

• Hoofdauteurs: Rohan Sharma MD (Auteur), Akilandeswari Aravindhan MD (Auteur), Clara Puente BS (Auteur), Aravindhan Veerapandiyan MD (Auteur)
• Formaat: Boek
• Gepubliceerd in: SAGE Publishing, 2022-12-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...