{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T12:32:04Z","timestamp":1789907524149,"version":"4.0.1"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,10,24]],"date-time":"2011-10-24T00:00:00Z","timestamp":1319414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:p>Ataxia\u2010telangiectasia (A\u2010T) is classically characterized by progressive neurodegeneration, oculocutaneous telangiectasia, immunodeficiency and elevated \u03b1\u2010fetoprotein levels. Some patients, classified as variant A\u2010T, exhibit a milder clinical course. In the latter patients extrapyramidal symptoms, instead of cerebellar ataxia, tend to be the dominating feature and other classical disease hallmarks, like telangiectasia, appear later or even may be absent. Some patients with variant disease have clinically pronounced anterior horn cell degeneration. Neuropathological studies of genetically proven A\u2010T patients are lacking. The aims of our study were to describe the neuropathology of three A\u2010T patients; in two of them the diagnosis was genetically confirmed. The neuropathological findings were compared with those of all known published autopsy findings in A\u2010T patients up to now. Two classical A\u2010T patients aged 19 and 22 and a 33\u2010year\u2010old patient with variant disease were autopsied. In line with previous reports, our patients had severe cerebellar atrophy, less pronounced degeneration of the dentate nucleus and inferior olive, degeneration of the posterior columns and neurogenic muscular atrophy. In addition, all three had anterior horn cell degeneration, which was most prominent at the lumbar level. Compared to the literature, the degenerative changes in the brain stem of the variant A\u2010T patient were somewhat less than anticipated for his age. Degenerative changes in the cerebellum and spinal cord were comparable with those in the literature. Progeric changes were lacking. In conclusion, compared to classical A\u2010T, the variant A\u2010T patient showed essentially the same, only slightly milder neuropathological abnormalities, except for anterior horn degeneration.<\/jats:p>","DOI":"10.1111\/j.1440-1789.2011.01263.x","type":"journal-article","created":{"date-parts":[[2011,10,24]],"date-time":"2011-10-24T02:09:14Z","timestamp":1319422154000},"page":"234-244","source":"Crossref","is-referenced-by-count":65,"title":["Neuropathology in classical and variant ataxia\u2010telangiectasia"],"prefix":"10.1111","volume":"32","author":[{"given":"Mijke M.M.","family":"Verhagen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Jacques","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel","family":"van Deuren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Ceuterick\u2010de Groote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corry M.R.","family":"Weemaes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berry H.P.H.","family":"Kremer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm A.R.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8l A.A.P.","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Lammens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,24]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"347","volume-title":"Hereditary Neuropathies and Spinocerebellar Atrophies","author":"Sedgwick RP","year":"1991"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7792600"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2005.026062"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181af33bd"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0967-5868(98)90295-8"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(72)90142-6"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-985899"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450624"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:5<330::AID-HUMU6>3.0.CO;2-H"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M103160200"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196307000-00015"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1827.2001.01199.x"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050210"},{"key":"e_1_2_6_15_2","first-page":"44","article-title":"Cytoskeletal pathology in ataxia\u2010telangiectasia","volume":"7","author":"Monaco S","year":"1988","journal-title":"Clin Neuropathol"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.21.4.526"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1958.02060050387007"},{"key":"e_1_2_6_18_2","first-page":"2253","article-title":"Cerebellar atrophy with oculocutaneous telangiectasis and bronchiectasis as a familial syndrome (in Dutch with English summary)","volume":"103","author":"Biemond A","year":"1959","journal-title":"Ned Tijdschr Geneeskd"},{"key":"e_1_2_6_19_2","first-page":"319","article-title":"On ataxia with telangiectasia, an anatomical\u2010clinical observation (in French with English summary)","volume":"3","author":"Ostetowska E","year":"1964","journal-title":"Acta Neuropathol"},{"key":"e_1_2_6_20_2","first-page":"1106","article-title":"Ataxia\u2010telangiectasia","volume":"91","author":"Dunn HG","year":"1964","journal-title":"Can Med Assoc J"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.29.6.489"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1966.tb01187.x"},{"key":"e_1_2_6_23_2","first-page":"185","article-title":"Ataxia\u2010telangiectasia: a familial degenerative disease leading to mental retardation \u2013 a case report","volume":"71","author":"Centerwall SA","year":"1966","journal-title":"Am J Ment Defic"},{"key":"e_1_2_6_24_2","first-page":"749","article-title":"Ataxia telangiectasia. 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