ArticleCerebellum (London, England)2024
Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.
Article in Cerebellum (London, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- 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
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Authors and funding
6 authors.
Funding
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Abstract
Genetic alterations in the ERCC4 gene typically cause Xeroderma pigmentosum and other nucleotide excision repair disorders. Neurologic symptoms are present in some of these patients. In rare cases, ERCC4-mutations can manifest with prominent neurologic symptoms. We report a 62-year-old woman who presented with a movement disorder caused by a homozygous pathogenic variant in the ERCC4 gene. She presented with a hyperkinetic movement disorder (chorea) that affected the distal limbs as well as facial muscles and jaw. There was no ataxia. Extensive clinical evaluation revealed predominantly fronto-parietal and cerebellar atrophy on brain MRI with sparing of the basal ganglia and mesial temporal lobe. Iron and sparse Ca
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