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Article

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

International journal of molecular sciences - 9 Jun 2024

Pi Byung Kwon, Chung Yeon Hak, Kim Hyun Su, Nam Soo Hyun, Lee Ah Jin, Nam Da Eun, Park Hyung Jun, Kim Sang Beom, Chung Ki Wha, Choi Byung-Ok

Abstract excerpt

Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify SACS mutations in a Korean CMT cohort with cerebellar ataxia and spasticity by whole exome sequencing (WES). As a result, eight pathogenic SACS mutations in four families were identified as the...

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Identifiers

PMID: 38928084
DOI: 10.3390/ijms25126378
PMCID: PMC11204044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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