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Article

Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia.

BMC medical genomics - 22 Dec 2025

Yuan Xiaoqin, Zhang Shanshan, Tang Yufeng

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. To date, at least 84 distinct loci (SPGs) and 67 causative genes have been identified. Even though the number of known causative genes is constantly increasing, a substantial portion of patients remains without a molecular diagnosis. Variants in the dynein, cytoplasmic 1, heavy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41430681
DOI: 10.1186/s12920-025-02298-y
PMCID: PMC12838410

Genes

DYNC1H1
ATL1
SPAST

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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