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Article

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.

CNS neuroscience & therapeutics - 1 Apr 2024

Wei Qiao, Yu Hao, Wang Pei-Shan, Xie Juan-Juan, Dong Hai-Lin, Wu Zhi-Ying, Li Hong-Fu

Abstract excerpt

INTRODUCTION: Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by progressive degeneration of upper motor neurons. Homozygous or compound heterozygous variants in COQ4 have been reported to cause primary CoQ10 deficiency-7 (COQ10D7), which is a mitochondrial disease. AIMS: We aimed to screened COQ4 variants in a cohort of HSP patients. METHODS: A total of 87...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38013626
DOI: 10.1111/cns.14529
PMCID: PMC11017416

Genes

COQ4

Variants

Provenance

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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