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Article

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

Journal of the neurological sciences - 15 Apr 2007

Shimazaki Haruo, Sakoe Kumi, Niijima Kenji, Nakano Imaharu, Takiyama Yoshihisa

Abstract excerpt

The authors describe an unusual case of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without leg spasticity, which is a core clinical feature of ARSACS. This is the second family with a spasticity-lacking phenotype in ARSACS. A peripheral nerve conduction study disclosed decreases in motor and sensory nerve conduction velocities with the disease progression. Although the leg spasticity is...

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Source

Identifiers

PMID: 17349660
DOI: 10.1016/j.jns.2007.02.002

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.PMID 17349660Read ↗

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