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Article

A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy.

Journal of Korean medical science - 1 Nov 2017

Kim Young Ok, Yun Misun, Jeong Jae Ho, Choi Seong Min, Kim Seul Kee, Yoon Woong, Park Chungoo, Hong Yeongjin, Woo Young Jong

Abstract excerpt

Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. Although their phenotypes were similar to those observed in patients with autosomal recessive cerebellar ataxias, other...

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Identifiers

PMID: 28960046
DOI: 10.3346/jkms.2017.32.11.1885
PMCID: PMC5639074

Genes

COG5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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