{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T04:32:58Z","timestamp":1779165178854,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,4]],"date-time":"2017-12-04T00:00:00Z","timestamp":1512345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004941","name":"Guy's and St Thomas' NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004941","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009360","name":"King\u2019s College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009360","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006662","name":"National Institute on Handicapped Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease\u2010like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult\u2010onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease\u2010like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease\u2010like phenotypes.<\/jats:p>","DOI":"10.1002\/acn3.511","type":"journal-article","created":{"date-parts":[[2017,12,5]],"date-time":"2017-12-05T10:41:10Z","timestamp":1512470470000},"page":"102-108","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Xeroderma pigmentosum is a definite cause of Huntington's disease\u2010like syndrome"],"prefix":"10.1002","volume":"5","author":[{"given":"Hector","family":"Garcia\u2010Moreno","sequence":"first","affiliation":[{"name":"Ataxia Centre Department of Molecular Neuroscience University College London Institute of Neurology London WC1N 3BG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiva","family":"Fassihi","sequence":"additional","affiliation":[{"name":"National Xeroderma Pigmentosum Service St John's Institute of Dermatology Guy's and St Thomas\u2019 Foundation Trust London SE1 7EH United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert P.E.","family":"Sarkany","sequence":"additional","affiliation":[{"name":"National Xeroderma Pigmentosum Service St John's Institute of Dermatology Guy's and St Thomas\u2019 Foundation Trust London SE1 7EH United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Phukan","sequence":"additional","affiliation":[{"name":"Neurology Department Royal Free Hospital London NW3 2QG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Warner","sequence":"additional","affiliation":[{"name":"Reta Lila Weston Institute of Neurological Studies University College London, Institute of Neurology 1 Wakefield Street London WC1N 1PJ United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan R.","family":"Lehmann","sequence":"additional","affiliation":[{"name":"Genome Damage and Stability Centre University of Sussex Falmer, Brighton BN1 9RQ United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Giunti","sequence":"additional","affiliation":[{"name":"Ataxia Centre Department of Molecular Neuroscience University College London Institute of Neurology London WC1N 3BG United Kingdom"},{"name":"National Xeroderma Pigmentosum Service St John's Institute of Dermatology Guy's and St Thomas\u2019 Foundation Trust London SE1 7EH United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,4]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.08.043"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2011.04.013"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0448"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-70"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1519444113"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200112"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn126"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1987.01660260111026"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12523"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2011.02.039"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20392"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3282f12074"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21915"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.03.021"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/324414"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2252"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl319"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-68"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000061"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-biochem-060815-014857"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2007.03.013"},{"key":"e_1_2_8_24_1","article-title":"Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum","author":"Schreglmann SR","year":"2017","journal-title":"Mov Disord"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25984"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Facn3.511","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.511","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T07:57:26Z","timestamp":1695887846000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,4]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/acn3.511"],"URL":"https:\/\/doi.org\/10.1002\/acn3.511","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,4]]},"assertion":[{"value":"2017-10-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-11-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-12-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}