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Article

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

International journal of molecular sciences - 4 Jan 2022

Bagaria Jaya, Bagyinszky Eva, An Seong Soo A

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. Although the disease progression of ARSACS may start in early childhood, cases with later onset have also been observed. Spasticity and ataxia could be common phenotypes, and retinal...

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Identifiers

PMID: 35008978
DOI: 10.3390/ijms23010552
PMCID: PMC8745260

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