{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:22:01Z","timestamp":1791040921875,"version":"4.1.0"},"reference-count":47,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T00:00:00Z","timestamp":1695340800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the <jats:italic>MRE11<\/jats:italic> gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features of patients with ATLD1 resemble those of ataxia telangiectasia (AT), with slower progression and milder presentation. Main symptoms include progressive cerebellar ataxia, oculomotor apraxia, cellular hypersensitivity to ionizing radiations. Facial dyskinesia, dystonia, dysarthria have also been reported. Here we present a 45-year old woman with cervical and facial dystonia, dysarthria and ataxia, who turned out to be the first case of ATLD without oculomotor apraxia, and with dystonia as a main manifestation of the disease. She had presented those non-specific symptoms for years, before whole exome sequencing confirmed the diagnosis.<\/jats:p>","DOI":"10.3389\/fneur.2023.1243535","type":"journal-article","created":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T09:14:01Z","timestamp":1695374041000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 \u2013 case report and review of the literature"],"prefix":"10.3389","volume":"14","author":[{"given":"Agnieszka","family":"Bajek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominika","family":"Przewodowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dariusz","family":"Koziorowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"J\u0119drzejowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanis\u0142aw","family":"Szlufik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,9,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"e4.184","DOI":"10.1136\/jnnp-2015-312379.9","article-title":"The known UK cases of ATAXIA telangiectasia-like disorder (ATLD)","volume":"86","author":"Westwood","year":"2015","journal-title":"J Neurol Psychiatry"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"R285","DOI":"10.1016\/j.cub.2010.01.034","article-title":"Mechanisms of chromosomal instability","volume":"20","author":"Thompson","year":"2010","journal-title":"Curr Biol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1093\/hmg\/ddi027","article-title":"Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder","volume":"14","author":"Fernet","year":"2005","journal-title":"Hum Mol Genet"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"5146","DOI":"10.1093\/hmg\/ddt368","article-title":"Disease-associated MRE11 mutants impact ATM\/ATR DNA damage signaling by distinct mechanisms","volume":"22","author":"Regal","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/S0092-8674(00)81547-0","article-title":"The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder","volume":"99","author":"Stewart","year":"1999","journal-title":"Cells"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"102748","DOI":"10.1016\/j.dnarep.2019.102748","article-title":"Entrenching role of cell cycle checkpoints and autophagy for maintenance of genomic integrity","volume":"86","author":"Anand","year":"2020","journal-title":"Chapter 13 of The AGT Cytogenetics Laboratory Manual, Fourth Edition. 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