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Article

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

Neurology - 13 Jan 2004

Grieco G S, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli F M

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown f...

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Source

Identifiers

PMID: 14718707
DOI: 10.1212/01.wnl.0000104491.66816.77

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14718707-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

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Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.PMID 14718707Read ↗

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

A novel mutation in SACS gene in a family from southern Italy.Semantic proximity Read ↗

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

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

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

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

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

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.Semantic proximity Read ↗

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

Novel SACS mutation in a Belgian family with sacsin-related ataxia.Semantic proximity Read ↗

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

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.Semantic proximity Read ↗

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