Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare progressive neurodegenerative disease caused by either homozygous or compound heterozygous mutations in the SACS gene. The original ARSACS cases found in Quebec showed very homogenous phenotypes characterized by cerebellar...

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Detalles Bibliográficos
Autores principales: Aida, Izumi, Ozawa, Tetsuo, Fujinaka, Hidehiko, Goto, Kiyoe, Ohta, Kentaro, Nakajima, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758457/
https://www.ncbi.nlm.nih.gov/pubmed/34121011
http://dx.doi.org/10.2169/internalmedicine.7401-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758457/
https://www.ncbi.nlm.nih.gov/pubmed/34121011
http://dx.doi.org/10.2169/internalmedicine.7401-21

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