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Article

A novel mutation in SACS gene in a family from southern Italy.

Neurology - 13 Jan 2004

Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli F M, Perretti A, Santoro L, De Michele G, Filla A

Abstract excerpt

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature term...

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Source

Identifiers

PMID: 14718706
DOI: 10.1212/wnl.62.1.100

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14718706-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.Semantic proximity Read ↗

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