ArticleCNS neuroscience & therapeutics2024
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
Article in CNS neuroscience & therapeutics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 5 citations in OpenAlex.
- Coenzyme Q4 gene compound heterozygous mutations cause hereditary spastic paraplegias: a case report.Journal of medical case reports · 2026Article
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Clinical features and genotype in COQ4 associated hereditary spastic paraplegia: a case report and a literature reanalysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Ears of the Lynx on Neuroimaging in a Patient with COQ4-Associated Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2025Article
- Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2024Article
- Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.CNS neuroscience & therapeutics · 2024Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
introductionHereditary 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.
aimsWe aimed to screened COQ4 variants in a cohort of HSP patients.
methodsA total of 87 genetically unidentified HSP index patients and their available family members were recruited. Whole exome sequencing (WES) was performed in all probands. Functional studies were performed to identify the pathogenicity of those uncertain significance variants.
resultsIn this study, five different COQ4 variants were identified in three Chinese HSP pedigrees and two variants were novel, c.87dupT (p.Arg30*), c.304C>T (p.Arg102Cys). More importantly, we firstly described two early-onset pure HSP caused by COQ4 variants. Functional studies in patient-derived fibroblast lines revealed a reduction cellular CoQ10 levels and the abnormal mitochondrial structure.
conclusionsOur findings revealed that bilateral variants in the COQ4 gene caused HSP predominant phenotype, expanding the phenotypic spectrum of the COQ4-related disorders.
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