ArticleJournal of human genetics2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.Journal of human genetics · 2026Article
- An unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature.Clinical parkinsonism & related disorders · 2025Review
- Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.International journal of molecular sciences · 2024Article
- Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.Cerebellum (London, England) · 2024Article
- Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.Brain : a journal of neurology · 2023Article
- Case report: Variants in theFrontiers in genetics · 2023Article
- Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.Acta neuropathologica communications · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.Cancers · 2021Article
- Case Report: Identification of Novel Variants inFrontiers in genetics · 2021Article
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
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Authors and funding
27 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. All of the patients described here showed very slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with young adolescent or midlife onset. Brain MRI demonstrated atrophy that included the cerebellum and brainstem. Of note, cutaneous symptoms were very mild: there was normal to very mild pigmentation of exposed skin areas and/or an equivocal history of pathological sunburn. However, an unscheduled DNA synthesis assay of fibroblasts from the patient revealed impairment of nucleotide excision repair. A similar phenotype was very recently recognized through genetic analysis of Caucasian cerebellar ataxia patients. Our results confirm that biallelic ERCC4 mutations cause a cerebellar ataxia-dominant phenotype with mild cutaneous symptoms, possibly accounting for a high proportion of the genetic causes of ARCA in Japan, where XP-F is prevalent.
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