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Article

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Neurogenetics - 1 Jul 2008

Vermeer Sascha, Meijer Rowdy P P, Pijl Benjamin J, Timmermans Janneke, Cruysberg Johannes R M, Bos Maaike M, Schelhaas Helenius J, van de Warrenburg Bart P C, Knoers Nine V A M, Scheffer Hans, Kremer Berry

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. This disorder, considered to be rare, was first described in the late seventies among French Canadians in the isolated Charlevoix-Saguenay region of Quebec. Nowadays, it is known that the disorder is not only...

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Identifiers

PMID: 18465152
DOI: 10.1007/s10048-008-0131-7
PMCID: PMC2441586

Genes

SACS

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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.PMID 18465152Read ↗

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