{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T07:48:49Z","timestamp":1791791329454,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA\u2010repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one\u2010third of patients. Emerging evidence suggests an increased risk of internal malignancies, particularly primary central nervous system (CNS) tumors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The aim of this work was to describe primary CNS tumors in patients with XP managed at the UK National XP Service and to review the literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively identified five genetically confirmed XP patients with primary CNS tumors followed longitudinally within the multidisciplinary UK National XP Service, including regular neurological evaluation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Five patients (aged 20\u201379\u2009years) developed primary CNS tumors: three XP\u2010C and two XP\u2010A. Tumors included gliomas, meningiomas, and subependymoma. CNS tumors occurred predominantly in younger patients with XP\u2010C, whereas late\u2010onset, slow\u2010growing meningiomas were observed in milder XP\u2010A phenotypes. One patient with XP\u2010C died of glioblastoma.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      XP is associated with primary CNS tumor risk, particularly in XP\u2010C and late\u2010onset XP\u2010A, supporting regular neurological assessment and targeted neuroimaging. \u00a9 2026 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70310","type":"journal-article","created":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T09:58:42Z","timestamp":1779443922000},"page":"2523-2528","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2753-8586","authenticated-orcid":false,"given":"Farrah S.","family":"Bakr","sequence":"first","affiliation":[{"name":"UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1568-3356","authenticated-orcid":false,"given":"Huseyin","family":"Arisoy","sequence":"additional","affiliation":[{"name":"UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust  London United Kingdom"},{"name":"Ataxia Centre, Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1269-8309","authenticated-orcid":false,"given":"Alan R.","family":"Lehmann","sequence":"additional","affiliation":[{"name":"UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust  London United Kingdom"},{"name":"Genome Damage and Stability Centre School of Life Sciences, University of Sussex, Falmer  Brighton United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3508-4788","authenticated-orcid":false,"given":"Paola","family":"Giunti","sequence":"additional","affiliation":[{"name":"UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust  London United Kingdom"},{"name":"Ataxia Centre, Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2601-1715","authenticated-orcid":false,"given":"Hiva","family":"Fassihi","sequence":"additional","affiliation":[{"name":"UK National Xeroderma Pigmentosum Service, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1519444113"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI195731"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/ced\/llag121"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad266"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02203-1"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2023.1282823"},{"key":"e_1_2_8_9_1","first-page":"S0022\u2010202X(25)0","article-title":"A splicing variant in XPA results in delayed onset of clinical features of Xeroderma Pigmentosum","author":"Heuvel A","year":"2025","journal-title":"J Invest 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pigmentosum with anaplastic astrocytoma","volume":"19","author":"Fujii Y","year":"1979","journal-title":"Clin Neurol"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.2307\/3575764"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/5.4.511"},{"key":"e_1_2_8_20_1","first-page":"113","article-title":"Xeroderma pigmentosum: clinical aspects","volume":"35","author":"Satoh Y","year":"1988","journal-title":"Gann Monograph Cancer Res"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(91)70202-D"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/120347549800200308"},{"issue":"7","key":"e_1_2_8_23_1","doi-asserted-by":"crossref","first-page":"495.e1","DOI":"10.1016\/j.jfo.2010.06.001","article-title":"Xeroderma pigmentosum compliqu\u00e9 d'une tumeur intrac\u00e9r\u00e9brale: \u00e0 propos d'un cas [Xeroderma pigmentosum associated with intracerebral tumor: a case report]","volume":"33","author":"El Ouazzani CK","year":"2010","journal-title":"J Fr Ophtalmol"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-1-4"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2021.05.030"}],"container-title":["Movement 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