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Article

Dystonia, spastic tetraplegia, and ataxia due to a novel mutation in the dynamin domain of OPA1.

Annals of clinical and translational neurology - 1 Mar 2024

Shi YuZhi, Zhang Kang, Dong GeHong, Pan Hua, Chen Bin, Wang An, Niu SongTao, Wang XinGao, Zhang ZaiQiang

Abstract excerpt

Movement disorders manifest in various hereditary neurodegenerative diseases. We reported a young man who presented with progressive upper limb dystonia, spastic tetraplegia, and ataxia. Whole-exome sequencing (WES) revealed a novel variant, c.2357A > G, in the dynamin domain of OPA1. No mtDNA deletion was detected in muscle by long-range PCR. Atrophy and decreased glucose metabolism of the basal ganglia were...

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Identifiers

PMID: 38148580
DOI: 10.1002/acn3.51981
PMCID: PMC10963289

Genes

OPA1

Provenance

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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