{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T05:03:52Z","timestamp":1773032632837,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T00:00:00Z","timestamp":1762214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T00:00:00Z","timestamp":1762214400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2019\/15298\u20101"],"award-info":[{"award-number":["2019\/15298\u20101"]}],"id":[{"id":"10.13039\/501100001807","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":[[2026,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Ataxia\u2010telangiectasia (AT) is a rare neurodegenerative disorder caused by biallelic\n                      <jats:italic>ATM<\/jats:italic>\n                      gene mutations. While most patients exhibit classical features\u2014progressive ataxia, oculocutaneous telangiectasia, and oculomotor apraxia\u2014atypical presentations and overlapping phenotypes with AT\u2010like disorders pose diagnostic challenges.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe clinical and genetic findings in patients with suspected AT and assess the diagnostic utility of whole\u2010exome sequencing (WES).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We analyzed 20 patients with clinical features suggestive of AT who underwent genomic evaluation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pathogenic or likely pathogenic\n                      <jats:italic>ATM<\/jats:italic>\n                      variants were found in 14 \/19 patients with available data. Three had mutations in MRE11A or PCNA, consistent with ATLD1 and ATLD2, respectively. Two patients with classic phenotypes lacked conclusive genetic findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our findings highlight the phenotypic and genetic heterogeneity of AT and limitations of WES. We propose the integration of whole\u2010genome sequencing (WGS) and RNA sequencing as complementary tools to improve diagnostic yield in AT and AT\u2010like syndromes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70418","type":"journal-article","created":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T17:24:03Z","timestamp":1762277043000},"page":"528-532","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond\n                    <scp>\n                      <i>ATM<\/i>\n                    <\/scp>"],"prefix":"10.1002","volume":"13","author":[{"given":"Luiz Eduardo","family":"Novis","sequence":"first","affiliation":[{"name":"Department of Neurology, Ataxia Unit, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8194-8412","authenticated-orcid":false,"given":"Luane Abdalla","family":"Gouvea","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ataxia Unit, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7185-8309","authenticated-orcid":false,"given":"Thiago Yoshinaga Tonholo","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ataxia Unit, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8575-7747","authenticated-orcid":false,"given":"Ivana Rocha","family":"Raslan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ataxia Unit, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina Sanchez Aranda","family":"Lago","sequence":"additional","affiliation":[{"name":"Department of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talita Lemos Neves","family":"Barreto","sequence":"additional","affiliation":[{"name":"Department of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luma Cardoso Gurgel","family":"de Souza","sequence":"additional","affiliation":[{"name":"Department of Allergy, Clinical Immunology and Rheumatology, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orlando Graziani Povoas","family":"Barsottini","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ataxia Unit, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1672-8894","authenticated-orcid":false,"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ataxia Unit, Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo 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