Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene

BACKGROUND: A 38-year-old woman was diagnosed autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) with a novel pathogenic variant in the SACS gene presented with gradually progressive spastic ataxia since the age of 2 years; then, she became wheelchair-bound at the age of 28 years. PH...

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Detalles Bibliográficos
Autores principales: Srikajon, Jindapa, Pitakpatapee, Yuvadee, Limwongse, Chanin, Chirapapaisan, Niphon, Srivanitchapoom, Prachaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2020
Materias:
Video Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394210/
https://www.ncbi.nlm.nih.gov/pubmed/32775015
http://dx.doi.org/10.5334/tohm.68

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