{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:39:31Z","timestamp":1761007171646,"version":"build-2065373602"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,10]],"date-time":"2022-12-10T00:00:00Z","timestamp":1670630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG 24403"],"award-info":[{"award-number":["IG 24403"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ataxia\u2010telangiectasia (A\u2010T) is a progressive multisystemic neurodegenerative disease. The phenotypic spectrum includes conditions (variant A\u2010T) with mild, late\u2010onset, and atypical clinical presentations characterized by the prevalence of dyskinetic rather than ataxic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>We describe the clinical presentations of 3 siblings with early\u2010onset truncal ataxia without obvious neurological deterioration or biological markers of classic A\u2010T phenotype. We performed functional and genetic evaluation of 3 siblings with very mild neurological phenotype. Genetic evaluation with a next\u2010generation sequencing panel for genes causative of cerebellar ataxia detected 2 known ATM gene variants, missense c.9023G&gt;A p.(Arg3008His), and leaky splicing c.1066\u20106T&gt;G variants. Functional studies showed mildly reduced ATM expression and residual kinase activity in the probands compared with healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These results suggest the importance of investigating ATM variants even in the presence of clinical and biological atypical cases to ensure specific therapeutic regimens and oncological surveillance in these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13618","type":"journal-article","created":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T08:55:14Z","timestamp":1668156914000},"page":"124-129","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Mild Neurological Phenotype Associated with Hypomorphic Variants in the <scp>Ataxia\u2010Telangiectasia<\/scp> Mutated Gene"],"prefix":"10.1002","volume":"10","author":[{"given":"Caterina","family":"Caputi","sequence":"first","affiliation":[{"name":"Department of Human Neuroscience Sapienza University  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Federici","sequence":"additional","affiliation":[{"name":"Unit of Cellular Networks and Molecular Therapeutic Targets Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Regina Elena National Cancer Institute  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Soddu","sequence":"additional","affiliation":[{"name":"Unit of Cellular Networks and Molecular Therapeutic Targets Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Regina Elena National Cancer Institute  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorena","family":"Travaglini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Piane","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine Sapienza University  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ginevra","family":"Zanni","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Diseases Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience Sapienza University  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0543-7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25394"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI67289"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01954092"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000228"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61870"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.3543"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-009-0396-z"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9344"},{"issue":"20","key":"e_1_2_7_11_1","first-page":"7608","article-title":"Spectrum of ATM gene mutations in a 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