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

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

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

Content Provider	Springer Nature Link
Author	Vermeer, Sascha Meijer, Rowdy P. P. Pijl, Benjamin J. Timmermans, Janneke Cruysberg, Johannes R. M. Bos, Maaike M. Schelhaas, Helenius J. Warrenburg, Bart. P. C. Kers, Nine V. A. M. Scheffer, Hans Kremer, Berry
Copyright Year	2008
Abstract	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 mutations in the SACS gene. Nine of them had homozygous mutations, and seven of them had compound heterozygous mutations. Retrospectively, the phenotype of patients carrying mutations was remarkably uniform: cerebellar ataxia with onset before age 13 years, lower limb spasticity and sensorimotor axonal neuropathy, and cerebellar (vermis) atrophy on magnetic resonance imaging, consistent with the core ARSACS phenotype previously described. The high rate of mutations (37%) identified in this cohort of Dutch patients suggests that ARSACS is substantially more frequent than previously estimated. We predict that the availability of SACS mutation analysis as well as an increasing awareness of the characteristic ARSACS phenotype will lead to the diagnosis of many additional patients, possibly even at a younger age.
Starting Page	207
Ending Page	214
Page Count	8
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	9
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2008-07-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Early onset spastic cerebellar ataxia Dutch population Novel SACS gene mutations ARSACS Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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

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

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

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

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

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