{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T19:23:42Z","timestamp":1774466622001,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,2,19]],"date-time":"2016-02-19T00:00:00Z","timestamp":1455840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To assess the relationship between genotype and neurological progression in ataxia\u2010telangiectasia (A\u2010T).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and laboratory data were extracted retrospectively from the records of patients attending the UK National Ataxia\u2010Telangiectasia Clinic. Neurological assessments were performed using the A\u2010T Index (Crawford Score) and the A\u2010T Neurological Examination Scale Toolkit (A\u2010T NEST). Variables influencing phenotype were identified by using an information\u2010theoretic approach starting from a maximal model to generate estimates of coefficients for each variable. Per\u2010individual progression was assessed for patients with three or more clinic attendances.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The genotype could be determined for 125\/135 patients. Crawford and A\u2010T NEST scores were well correlated. For both scoring systems the estimated coefficients were significantly positive for <jats:italic>Age<\/jats:italic> x <jats:italic>kinase activity<\/jats:italic> but not <jats:italic>Age<\/jats:italic> x <jats:italic>protein expression<\/jats:italic>. Unlike the per\u2013genotype analysis, the individual progression of neurological scores in the 34 patients that attended on three or more occasions was not smooth and linear (and in some cases improved over time).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Residual kinase activity confers a milder phenotype but there is no difference between kinase\u2010dead and protein\u2010null genotypes. The non\u2010linear progression of individual patients\u2019 neurological scores may reflect biological complexity, day\u2010to\u2010day variability, limitations of the assessment methods or a combination of all three.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.13052","type":"journal-article","created":{"date-parts":[[2016,2,20]],"date-time":"2016-02-20T20:09:54Z","timestamp":1455998994000},"page":"690-697","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Longitudinal analysis of the neurological features of ataxia\u2010telangiectasia"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1669-6666","authenticated-orcid":false,"given":"Thomas J","family":"Jackson","sequence":"first","affiliation":[{"name":"School of Medicine Queen's Medical Centre University of Nottingham Nottingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Chow","sequence":"additional","affiliation":[{"name":"Nottingham Children's Hospital Queen's Medical Centre Nottingham University Hospitals NHS Trust Nottingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[{"name":"Nottingham Clinical Genetics Service Nottingham University Hospitals NHS Trust Nottingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Byrd","sequence":"additional","affiliation":[{"name":"School of Cancer Sciences University of Birmingham Edgbaston Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malcolm R","family":"Taylor","sequence":"additional","affiliation":[{"name":"School of Cancer Sciences University of Birmingham Edgbaston Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William P","family":"Whitehouse","sequence":"additional","affiliation":[{"name":"School of Medicine Queen's Medical Centre University of Nottingham Nottingham UK"},{"name":"Nottingham Children's Hospital Queen's Medical Centre Nottingham University Hospitals NHS Trust Nottingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,19]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"573","article-title":"The incidence and gene frequency of ataxia\u2010telangiectasia in the United States","volume":"39","author":"Swift M","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210809"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pathol-011811-132509"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2006.094268"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12453"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22016"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12262"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.7.1505"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2011.266"},{"key":"e_1_2_8_12_1","unstructured":"BatesD MaechlerM BolkerBM WalkerS. 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