Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS 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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Detalles Bibliográficos
Autores principales: Sharma, Rohan, Aravindhan, Akilandeswari, Puente, Clara, Veerapandiyan, Aravindhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9720799/
https://www.ncbi.nlm.nih.gov/pubmed/36458808
http://dx.doi.org/10.1177/23247096221139670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9720799/
https://www.ncbi.nlm.nih.gov/pubmed/36458808
http://dx.doi.org/10.1177/23247096221139670

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