{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T03:17:32Z","timestamp":1792207052685,"version":"4.4.0"},"reference-count":75,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:p>\n                    Ataxia telangiectasia (A-T) is one of a group of autosomal recessive cerebellar ataxias. Presentation is usually by the age of 2 years and ataxia of both upper and lower limbs develops, such that by early teenage most patients require a wheelchair for mobility. Speech and eye movement are also affected. Other important features are t(7;14) translocations, immunodeficiency, a high serum \u03b1\u00a0fetoprotein concentration, growth retardation, telangiectasia\u2014most noticeably on the bulbar conjunctiva\u2014and a very high risk of developing a lymphoid tumour. Patients also show an increased sensitivity to ionising radiation. The classic form of A-T results from the presence of two truncating\n                    <jats:italic>ATM<\/jats:italic>\n                    mutations, leading to total loss of the ATM protein, a protein kinase. Importantly, A-T shows clinical heterogeneity, including milder forms where neurological progression may be slower or of later onset. In these cases there is a correlation between the preservation of neurological function, decreased radiosensitivity, and the degree of retained ATM protein kinase activity. Considerable scope remains for understanding the progress of the disorder in relation to the types of\n                    <jats:italic>ATM<\/jats:italic>\n                    mutation present.\n                  <\/jats:p>","DOI":"10.1136\/jcp.2005.026062","type":"journal-article","created":{"date-parts":[[2005,9,27]],"date-time":"2005-09-27T12:28:29Z","timestamp":1127824109000},"page":"1009-1015","source":"Crossref","is-referenced-by-count":196,"title":["Molecular pathology of ataxia telangiectasia"],"prefix":"10.1136","volume":"58","author":[{"given":"A M R","family":"Taylor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P J","family":"Byrd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,9,27]]},"reference":[{"key":"2025121322270522000_58.10.1009.1","first-page":"555","volume":"84","year":"1990","journal-title":"Hum Genet"},{"key":"2025121322270522000_58.10.1009.2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.7.1505"},{"key":"2025121322270522000_58.10.1009.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(02)01796-8"},{"key":"2025121322270522000_58.10.1009.4","first-page":"686","volume":"43","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2025121322270522000_58.10.1009.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.12.046"},{"key":"2025121322270522000_58.10.1009.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(00)70106-5"},{"key":"2025121322270522000_58.10.1009.7","unstructured":"Sedgwick RP, Boder E. Ataxia telangiectasia. In: de Jong JBMV, ed. Handbook of clinical neurology. Hereditary neuropathies and spinocerebellar atrophies. Amsterdam: Elsevier Science Publishers BV, 1991:347\u201342."},{"key":"2025121322270522000_58.10.1009.8","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1182\/blood.V87.2.423.bloodjournal872423","volume":"87","year":"1996","journal-title":"Blood"},{"key":"2025121322270522000_58.10.1009.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112263252602"},{"key":"2025121322270522000_58.10.1009.10","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/93.2.121"},{"key":"2025121322270522000_58.10.1009.11","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10367"},{"key":"2025121322270522000_58.10.1009.12","doi-asserted-by":"publisher","DOI":"10.1080\/1042819021000002884"},{"key":"2025121322270522000_58.10.1009.13","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1011"},{"key":"2025121322270522000_58.10.1009.14","doi-asserted-by":"publisher","DOI":"10.1038\/nature01368"},{"key":"2025121322270522000_58.10.1009.15","doi-asserted-by":"publisher","DOI":"10.1038\/35043058"},{"key":"2025121322270522000_58.10.1009.16","doi-asserted-by":"publisher","DOI":"10.1038\/ng0897-397"},{"key":"2025121322270522000_58.10.1009.17","first-page":"453","volume":"17 18","year":"1997","journal-title":"Nat Genet"},{"key":"2025121322270522000_58.10.1009.18","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1200304"},{"key":"2025121322270522000_58.10.1009.19","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1101\/gad.14.8.927","volume":"14","year":"2000","journal-title":"Genes Dev"},{"key":"2025121322270522000_58.10.1009.20","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.4.433"},{"key":"2025121322270522000_58.10.1009.21","first-page":"320","volume":"59","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025121322270522000_58.10.1009.22","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M103160200"},{"key":"2025121322270522000_58.10.1009.23","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20139"},{"key":"2025121322270522000_58.10.1009.24","doi-asserted-by":"publisher","DOI":"10.1086\/301706"},{"key":"2025121322270522000_58.10.1009.25","doi-asserted-by":"publisher","DOI":"10.1086\/302418"},{"key":"2025121322270522000_58.10.1009.26","doi-asserted-by":"publisher","DOI":"10.1086\/301755"},{"key":"2025121322270522000_58.10.1009.27","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050675"},{"key":"2025121322270522000_58.10.1009.28","first-page":"169","volume":"21","year":"2003","journal-title":"Hum Mutat"},{"key":"2025121322270522000_58.10.1009.29","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/ajmg.a.20601","volume":"126A","year":"2004","journal-title":"Am J Med Genet"},{"key":"2025121322270522000_58.10.1009.30","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81547-0"},{"key":"2025121322270522000_58.10.1009.31","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240404"},{"key":"2025121322270522000_58.10.1009.32","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-184"},{"key":"2025121322270522000_58.10.1009.33","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-189"},{"key":"2025121322270522000_58.10.1009.34","first-page":"1320","volume":"67","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2025121322270522000_58.10.1009.35","doi-asserted-by":"publisher","DOI":"10.1038\/ng987"},{"key":"2025121322270522000_58.10.1009.36","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.2.135"},{"key":"2025121322270522000_58.10.1009.37","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110217"},{"key":"2025121322270522000_58.10.1009.38","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1155"},{"key":"2025121322270522000_58.10.1009.39","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh221"},{"key":"2025121322270522000_58.10.1009.40","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi027"},{"key":"2025121322270522000_58.10.1009.41","doi-asserted-by":"publisher","DOI":"10.1136\/adc.82.5.400"},{"key":"2025121322270522000_58.10.1009.42","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81174-5"},{"key":"2025121322270522000_58.10.1009.43","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81175-7"},{"key":"2025121322270522000_58.10.1009.44","doi-asserted-by":"publisher","DOI":"10.1016\/0167-8817(83)90021-4"},{"key":"2025121322270522000_58.10.1009.45","doi-asserted-by":"publisher","DOI":"10.1038\/35007091"},{"key":"2025121322270522000_58.10.1009.46","doi-asserted-by":"publisher","DOI":"10.1038\/35013083"},{"key":"2025121322270522000_58.10.1009.47","doi-asserted-by":"publisher","DOI":"10.1038\/35013089"},{"key":"2025121322270522000_58.10.1009.48","doi-asserted-by":"publisher","DOI":"10.1038\/75508"},{"key":"2025121322270522000_58.10.1009.49","doi-asserted-by":"publisher","DOI":"10.1038\/ncb879"},{"key":"2025121322270522000_58.10.1009.50","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg283"},{"key":"2025121322270522000_58.10.1009.51","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)01247-3"},{"key":"2025121322270522000_58.10.1009.52","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1016\/j.dnarep.2004.06.017","volume":"3","year":"2004","journal-title":"DNA Repair (Amst)"},{"key":"2025121322270522000_58.10.1009.53","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh122"},{"key":"2025121322270522000_58.10.1009.54","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh080"},{"key":"2025121322270522000_58.10.1009.55","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440220"},{"key":"2025121322270522000_58.10.1009.56","first-page":"805","volume":"251","year":"2004","journal-title":"J Neurol"},{"key":"2025121322270522000_58.10.1009.57","doi-asserted-by":"publisher","DOI":"10.1038\/ng1303"},{"key":"2025121322270522000_58.10.1009.58","unstructured":"Spector BD, Filipovich AM, Perry GS, et al. Epidemiology of cancer in ataxia telangiectasia. In: Bridges BA, Harnden DG, eds. Ataxia telangiectasia\u2014a cellular and molecular link between cancer, neuropathology and immune deficiency. Chichester: John Wiley, 1982:102\u201338."},{"key":"2025121322270522000_58.10.1009.59","doi-asserted-by":"publisher","DOI":"10.1080\/09553009414552011"},{"key":"2025121322270522000_58.10.1009.60","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-307"},{"key":"2025121322270522000_58.10.1009.61","first-page":"276","volume":"15","year":"1997","journal-title":"Nat Genet"},{"key":"2025121322270522000_58.10.1009.62","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-03-2678"},{"key":"2025121322270522000_58.10.1009.63","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-96"},{"key":"2025121322270522000_58.10.1009.64","doi-asserted-by":"publisher","DOI":"10.1038\/nm1097-1155"},{"key":"2025121322270522000_58.10.1009.65","doi-asserted-by":"crossref","first-page":"3920","DOI":"10.1182\/blood.V91.10.3920.3920_3920_3926","volume":"91","year":"1998","journal-title":"Blood"},{"key":"2025121322270522000_58.10.1009.66","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)10117-4"},{"key":"2025121322270522000_58.10.1009.67","first-page":"24","volume":"59","year":"1999","journal-title":"Cancer Res"},{"key":"2025121322270522000_58.10.1009.68","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1182\/blood.V94.2.748","volume":"94","year":"1999","journal-title":"Blood"},{"key":"2025121322270522000_58.10.1009.69","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.050400997"},{"key":"2025121322270522000_58.10.1009.70","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.57"},{"key":"2025121322270522000_58.10.1009.71","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000529)92:3<170::AID-AJMG3>3.0.CO;2-#"},{"key":"2025121322270522000_58.10.1009.72","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s00234-003-0945-9","volume":"45","year":"2003","journal-title":"Neuroradiology"},{"key":"2025121322270522000_58.10.1009.73","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(98)00021-9"},{"key":"2025121322270522000_58.10.1009.74","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81714-6"},{"key":"2025121322270522000_58.10.1009.75","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5366.1089"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.2005.026062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T06:27:14Z","timestamp":1765693634000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.2005.026062"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,27]]},"references-count":75,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2005,9,27]]},"published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1136\/jcp.2005.026062"],"URL":"https:\/\/doi.org\/10.1136\/jcp.2005.026062","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,27]]}}}