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Article

Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation.

Neuromuscular disorders : NMD - 1 Feb 2018

Souza Paulo Victor Sgobbi, Bortholin Thiago, Naylor Fernando George Monteiro, Pinto Wladimir Bocca Vieira de Rezende, Oliveira Acary Souza Bulle

Abstract excerpt

Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure...

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Source

Identifiers

PMID: 29277257
DOI: 10.1016/j.nmd.2017.11.008

Genes

SACS

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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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