{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:45:15Z","timestamp":1789785915520,"version":"4.0.1"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,2,12]],"date-time":"2008-02-12T00:00:00Z","timestamp":1202774400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,2,12]],"date-time":"2008-02-12T00:00:00Z","timestamp":1202774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"abstract":"<jats:p>Xeroderma pigmentosum is a genetically heterogeneous disease caused by DNA repair defects resulting in skin cancer and, in some patients, a primary neuronal degeneration which has in all previous reports become symptomatic prior to age 21 years. A 47-year-old xeroderma pigmentosum patient is described who, although neurologically asymptomatic, has sensorineural hearing loss together with clinical signs and electrophysiologic evidence of a developing peripheral neuropathy. This case suggests that defective DNA repair may cause neurodegeneration in adults as well as in children.<\/jats:p>","DOI":"10.1159\/000116932","type":"journal-article","created":{"date-parts":[[2008,2,12]],"date-time":"2008-02-12T06:16:35Z","timestamp":1202796995000},"page":"188-190","source":"Crossref","is-referenced-by-count":34,"title":["Clinically Asymptomatic Xeroderma pigmentosum Neurological Disease in an Adult: Evidence for a Neurodegeneration in Later Life Caused by Defective DNA Repair"],"prefix":"10.1159","author":[{"given":"Jay H.","family":"Robbins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger A.","family":"Brumback","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan N.","family":"Moshell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,2,12]]},"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/116932","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000116932","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T11:14:13Z","timestamp":1777547653000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000116932"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,12]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000116932","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"value":"0014-3022","type":"print"},{"value":"1421-9913","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,12]]}}}