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Article

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2015

Blumkin Lubov, Bradshaw Teisha, Michelson Marina, Kopler Tal, Dahari Dvir, Lerman-Sagie Tally, Lev Dorit, Chapple J Paul, Leshinsky-Silver Esther

Abstract excerpt

BACKGROUND: ARSACS (autosomal-recessive spastic ataxia of Charlevoix-Saguenay) is a neurodegenerative disorder caused by SACS gene mutations and characterized by a triad of symptoms: early-onset cerebellar ataxia, spasticity and peripheral neuropathy. A characteristic retinal nerve fiber hypertro...

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Source

Identifiers

PMID: 25819952
DOI: 10.1016/j.ejpn.2015.02.005

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25819952-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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