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Article

Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.

Annals of clinical and translational neurology - 1 Sept 2023

Chou Ying-Tsen, Hsu Shao-Lun, Tsai Yu-Shuen, Lu Yi-Jiun, Yu Kai-Wei, Wu Hsiu-Mei, Liao Yi-Chu, Lee Yi-Chung

Abstract excerpt

OBJECTIVE: Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by slowly progressive lower limb spasticity and weakness. HSP type 54 (SPG54) is autosomal recessively inherited and caused by mutations in the DDHD2 gene. This study investigated the clinical characteristics and molecular features of DDHD2 mutations in a cohort of Taiwanese patients with HSP....

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Identifiers

PMID: 37420318
DOI: 10.1002/acn3.51850
PMCID: PMC10502669

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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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