ArticleJournal of neurology, neurosurgery, and psychiatry2025
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Article in Journal of neurology, neurosurgery, and psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The Chemical Structures, Neuroprotective Effects, Structure-Activity Relationships, and Applications of Flavonoids, Phenolic Acids, Terpenoids, and Sterols in Dandelion: A Review.Food science & nutrition · 2026Review
- Huntington's Disease-like Syndrome as a Rare Presentation of CACNA1A-Related Disorder.Movement disorders clinical practice · 2026Article
- Decoding Huntington's disease: a global survey on symptoms and genetic testing practices.European archives of psychiatry and clinical neuroscience · 2025Article
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Authors and funding
12 authors.
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Abstract
backgroundGenetic testing for Huntington's disease (HD) was initially usually positive but more recently the negative rate has increased: patients with negative HD tests are described as having HD phenocopy syndromes (HDPC). This study examines their clinical characteristics and investigates the genetic causes of HDPC.
methodsClinical data from neurogenetics clinics and HDPC gene-panel data were analysed. Additionally, a subset of 50 patients with HDPC underwent whole-genome sequencing (WGS) analysed via Expansion Hunter and Ingenuity Variant Analysis.
resultsHDPC prevalence was estimated at 2.3-2.9 per 100 000. No clinical discriminators between patients with HD and HDPC could be identified. In the gene-panel data, deleterious variants and potentially deleterious variants were over-represented in cases versus controls. WGS analysis identified one
conclusionsThe HDPC phenotype is consistent with HD, but the genotype is distinct. Both established deleterious variants and novel potentially deleterious variants in genes related to neurodegeneration contribute to HDPC.
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