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Article

Mutations in SACS cause atypical and late-onset forms of ARSACS.

Neurology - 28 Sept 2010

Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic V Milic, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P

Abstract excerpt

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurodegenerative disorder caused by mutations in SACS. The phenotype consists of a childhood-onset triad of cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. OBJECTIVE: To provide more insight into the prevalence of SACS mutations and the variability of the associated phenotype. METHODS: Mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20876471
DOI: 10.1212/WNL.0b013e3181f4d86c

Genes

SACS

Provenance

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Related research

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Research trail→

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Mutations in SACS cause atypical and late-onset forms of ARSACS.PMID 20876471Read ↗

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

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.Semantic proximity Read ↗

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Semantic proximity Read ↗

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.Semantic proximity Read ↗

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.Semantic proximity Read ↗

A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.Semantic proximity Read ↗

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.Semantic proximity Read ↗

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

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

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.Semantic proximity Read ↗

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