{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:22:47Z","timestamp":1791202967456,"version":"4.2.0"},"reference-count":18,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2020,4,8]]},"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia\u2014with some preserved ataxia telangiectasia-mutated (ATM) kinase activity\u2014have a milder and often atypical phenotype, which can lead to long delays in diagnosis. Clinicians need to be aware of the spectrum of clinical presentations of ataxia telangiectasia, especially given the implications for malignancy surveillance and management. Here, we review the phenotypes of ataxia telangiectasia, illustrated with case reports and videos, and discuss its pathological mechanisms, diagnosis and management.<\/jats:p>","DOI":"10.1136\/practneurol-2019-002253","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T12:50:16Z","timestamp":1600692616000},"page":"404-414","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":17,"title":["Ataxia telangiectasia: what the neurologist needs to know"],"prefix":"10.1136","volume":"20","author":[{"given":"May Yung","family":"Tiet","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences, Addenbrookes Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Addenbrookes Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke E","family":"Hensiek","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Addenbrookes Hospital, Cambridge, UK"},{"name":"National Adult Clinic for Ataxia Telangiectasia, Papworth Hospital NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,9,21]]},"reference":[{"key":"2025090410294686000_20.5.404.1","first-page":"e19","article-title":"Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia","volume":"92","author":"van Os","year":"2018","journal-title":"Neurology"},{"key":"2025090410294686000_20.5.404.2","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/ana.25394","article-title":"Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia","volume":"85","author":"Schon","year":"2019","journal-title":"Ann Neurol"},{"key":"2025090410294686000_20.5.404.3","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.neuron.2014.06.034","article-title":"DNA damage and its links to neurodegeneration","volume":"16","author":"Madabhushi","year":"2014","journal-title":"Neuron"},{"key":"2025090410294686000_20.5.404.4","doi-asserted-by":"crossref","unstructured":"Chow H-M , Herrup K , Swerdel MR , et al. 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