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Article

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.

American journal of human genetics - 4 Jan 2024

Wallenius Joel, Kafantari Efthymia, Jhaveri Emma, Gorcenco Sorina, Ameur Adam, Karremo Christin, Dobloug Sigurd, Karrman Kristina, de Koning Tom, Ilinca Andreea, Landqvist Waldö Maria, Arvidsson Andreas, Persson Staffan, Englund Elisabet, Ehrencrona Hans, Puschmann Andreas

Abstract excerpt

Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause had remained unknown. Here, we report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, in zinc finger homeobox 3 (ZFHX3) in these families. The expansions were identified in whole-genome datasets within...

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Identifiers

PMID: 38035881
DOI: 10.1016/j.ajhg.2023.11.008
PMCID: PMC10806739

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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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