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Article

A phenotype without spasticity in sacsin-related ataxia.

Neurology - 28 Jun 2005

Shimazaki H, Takiyama Y, Sakoe K, Ando Y, Nakano I

Abstract excerpt

The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.

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Source

Identifiers

PMID: 15985586
DOI: 10.1212/01.WNL.0000166031.91514.B3

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A phenotype without spasticity in sacsin-related ataxia.PMID 15985586Read ↗

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.Semantic proximity Read ↗

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.Semantic proximity Read ↗

Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.Semantic proximity Read ↗

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

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.Semantic proximity Read ↗

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