biostudies-literatureUnknown9(3)Vermeer SAutosomal 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 limited to this region but occurs worldwide. Our objective was to identify cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in Dutch patients with recessive early-onset cerebellar ataxia by sequencing the complete SACS gene. In a Dutch cohort of 43 index patients with ataxia onset before age 25, we identified 16 index patients (total 23 patients) with mutationsNeurogenetics207-14https://www.ebi.ac.uk/biostudies/studies/S-EPMC2441586biostudies-literatureARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.PMC2441586Schelhaas HJVermeer STimmermans JScheffer HMeijer RPCruysberg JRKnoers NVKremer BBos MMPijl BJvan de Warrenburg BPfalseARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.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 limited to this region but occurs worldwide. Our objective was to identify cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in Dutch patients with recessive early-onset cerebellar ataxia by sequencing the complete SACS gene. In a Dutch cohort of 43 index patients with ataxia onset before age 25, we identified 16 index patients (total 23 patients) with mutations2008-01-01T00:00:00Z2008 Jul2025-06-01T01:07:57.988Z2019-03-27T00:15:37ZS-EPMC24415861846515210.1007/s10048-008-0131-7