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This study examines their clinical characteristics and investigates the genetic causes of HDPC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      HDPC prevalence was estimated at 2.3\u20132.9 per 100\u2009000. 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\n                      <jats:italic>ATXN1<\/jats:italic>\n                      expansion in a patient with HDPC.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jnnp-2024-333602","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T13:20:18Z","timestamp":1729689618000},"page":"466-469","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Huntington\u2019s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration"],"prefix":"10.1136","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1066-4938","authenticated-orcid":false,"given":"Carolin Anna Maria","family":"Koriath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Guntoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope","family":"Norsworthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egor","family":"Dolzhenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Eberle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davina J","family":"Hensman Moss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8965-1253","authenticated-orcid":false,"given":"Michael","family":"Flower","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Hummerich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Elizabeth","family":"Rosser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2716-2045","authenticated-orcid":false,"given":"Sarah J","family":"Tabrizi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4326-1468","authenticated-orcid":false,"given":"Simon","family":"Mead","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward J","family":"Wild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,10,23]]},"reference":[{"key":"2025041009251778000_96.5.466.1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.5"},{"key":"2025041009251778000_96.5.466.2","first-page":"852","article-title":"Huntington disease without CAG expansion: phenocopies or errors in assignment?","volume":"54","author":"Andrew","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025041009251778000_96.5.466.3","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.151"},{"key":"2025041009251778000_96.5.466.4","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-018-0224-0"},{"key":"2025041009251778000_96.5.466.5","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000187068.92184.63"},{"key":"2025041009251778000_96.5.466.6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181bf997a"},{"key":"2025041009251778000_96.5.466.7","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"2025041009251778000_96.5.466.8","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13413"},{"key":"2025041009251778000_96.5.466.9","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01162-2"},{"key":"2025041009251778000_96.5.466.10","doi-asserted-by":"publisher","DOI":"10.1101\/gr.225672.117"},{"key":"2025041009251778000_96.5.466.11","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21915"},{"key":"2025041009251778000_96.5.466.12","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12312"},{"key":"2025041009251778000_96.5.466.13","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000067"},{"key":"2025041009251778000_96.5.466.14","first-page":"203","article-title":"Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington\u2019s disease and without mutation in the IT15 gene","volume":"42","author":"Su\u0142ek-Piatkowska","year":"2008","journal-title":"Neurol Neurochir Pol"},{"key":"2025041009251778000_96.5.466.15","doi-asserted-by":"publisher","DOI":"10.1080\/00207450590519571"},{"key":"2025041009251778000_96.5.466.16","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00462-2"},{"key":"2025041009251778000_96.5.466.17","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-020-00416-1"}],"container-title":["Journal of Neurology, Neurosurgery &amp; 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