{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T08:55:06Z","timestamp":1778662506188,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":6674,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1986,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony\u2010forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.<\/jats:p>","DOI":"10.1002\/ana.410200112","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:32:11Z","timestamp":1104600731000},"page":"70-75","source":"Crossref","is-referenced-by-count":67,"title":["Neurological manifestations in xeroderma pigmentosum"],"prefix":"10.1002","volume":"20","author":[{"given":"Takashi","family":"Mimaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoyuki","family":"Itoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiro","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuzo","family":"Tagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyakuji","family":"Yabuuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiraku","family":"Takebe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(72)90155-4"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.75.4.1984"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(79)90202-1"},{"key":"e_1_2_1_5_2","first-page":"47","article-title":"Xeroderma pigmentosum with mental deficiency and neurologic disturbances: De Sanctis\u2010Cacchione's disease","volume":"16","author":"Christodorescu D","year":"1978","journal-title":"Rev Roum Med Neurol Psychiat"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.63.2.428"},{"key":"e_1_2_1_7_2","first-page":"269","volume":"56","author":"De Sanctis C","year":"1932","journal-title":"L'idiozia xerodermica. Riv Sper Freniat"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(76)90044-0"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1120962300018588"},{"key":"e_1_2_1_10_2","first-page":"420","article-title":"Xeroderma pigmentosum: Neurologic and cutaneous abnormalities associated with a defect in DNA repair","volume":"22","author":"Festoff BW","year":"1972","journal-title":"Neurology (Minneap)"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1159\/000115457"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-197809000-00015"},{"key":"e_1_2_1_13_2","first-page":"252","article-title":"On diseases of the skin","volume":"3","author":"Hebra F","year":"1874","journal-title":"New Sydenham Soc Lond"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00244109"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(79)90231-8"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(75)90208-0"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1965.01600090032005"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-80-2-221"},{"key":"e_1_2_1_19_2","first-page":"19","article-title":"Kinetic analysis of polyethylene glycol\u2010induced cell fusion in cultured human fibroblasts: its application to genetic complementation analysis of xeroderma pigmentosum","volume":"33","author":"Sato K","year":"1982","journal-title":"Med J Osaka Univ"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1938.01980100120008"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00244213"},{"key":"e_1_2_1_22_2","first-page":"490","article-title":"DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan","volume":"37","author":"Takebe H","year":"1977","journal-title":"Cancer Res"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(74)90057-4"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410200112","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410200112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T10:20:34Z","timestamp":1697883634000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410200112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,7]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1986,7]]}},"alternative-id":["10.1002\/ana.410200112"],"URL":"https:\/\/doi.org\/10.1002\/ana.410200112","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,7]]}}}