{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:20:05Z","timestamp":1760059205190,"version":"build-2065373602"},"reference-count":25,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Recovery and Resilience Plan of the Republic of Bulgaria","award":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"],"award-info":[{"award-number":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"]}]},{"name":"Fund for Scientific Research (FWO-Flanders)","award":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"],"award-info":[{"award-number":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"]}]},{"name":"French Muscular Dystrophy Association","award":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"],"award-info":[{"award-number":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"]}]},{"name":"Research Fund of Medical University-Sofia","award":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"],"award-info":[{"award-number":["BG-RRP-2.004-0004-C01","G048220N","G0A2122N","23708","MUS\/D-120\/24"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder due to mutations in the ATM gene. Given the residual kinase activity and the type of ATM mutation, its clinical spectrum varies from a severe classic phenotype to a variant atypical form. Material and methods: This study included 28 patients belonging to four big Bulgarian Muslim pedigrees with tremor and dystonia. Whole-exome sequencing was performed in seven affected individuals from two unrelated pedigrees, followed by Sanger sequencing of the coding sequences and exon\u2013intron borders of the ATM gene. Results: Twenty-four of the affected individuals were homozygous for c.8147T&gt;C (p.Val2716Ala) in ATM, while four of the affected individuals were compound heterozygous. The targeted Sanger sequencing along the ATM gene revealed as a second mutation in three of the patients the splice-site variant c.4909+1G&gt;A and in one patient a synonymous pathogenic variant with a splicing effect, c.3576G&gt;A, p.Lys1192. The age at onset in our group varied between 14 days and 40 years. The main symptoms were dystonia and tremor, more prominent in the upper limbs and the neck, and dystonic dysarthria and dysphagia. The clinical course was very slowly progressive. Brain imaging was normal in the majority of the patients. Conclusion: Clinical features due to mutations in the ATM gene can be very broad. The disease may appear as dystonia, especially of early onset, without frank cerebellar involvement and also normal cerebral imaging. A-T should be considered in all patients with unexplained, even mild movement disorders and elevated \u03b1 fetoprotein.<\/jats:p>","DOI":"10.3390\/genes16060641","type":"journal-article","created":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T12:28:42Z","timestamp":1748435322000},"page":"641","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Variant Ataxia\u2013Telangiectasia Presenting as Tremor\u2013Dystonia Syndrome in a Bulgarian Religious Minority"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5142-5007","authenticated-orcid":false,"given":"Teodora","family":"Chamova","sequence":"first","affiliation":[{"name":"Department of Neurology, University Hospital \u201cAlexandrovska\u201d, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tihomir","family":"Todorov","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica\u201d, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulius","family":"Palaima","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium"},{"name":"Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, 2610 Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petya","family":"Yankova","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, University Hospital \u201cAlexandrovska\u201d, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0461-9065","authenticated-orcid":false,"given":"Iliyana","family":"Pacheva","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital \u201cSt George\u201d, 4000 Plovdiv, Bulgaria"},{"name":"Department of Pediatrics, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"},{"name":"Research Institute at Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5041-332X","authenticated-orcid":false,"given":"Ivan","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital \u201cSt George\u201d, 4000 Plovdiv, Bulgaria"},{"name":"Department of Pediatrics, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"},{"name":"Research Institute at Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilyana","family":"Georgieva","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry and Biochemistry, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"Cherninkova","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital \u201cAlexandrovska\u201d, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexey","family":"Savov","sequence":"additional","affiliation":[{"name":"National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dora","family":"Zlatareva","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, University Hospital \u201cAlexandrovska\u201d, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisaveta","family":"Naumova","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, University Hospital \u201cAlexandrovska\u201d, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albena","family":"Todorova","sequence":"additional","affiliation":[{"name":"Genetic Medico-Diagnostic Laboratory \u201cGenica\u201d, 1431 Sofia, Bulgaria"},{"name":"Department of Medical Chemistry and Biochemistry, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3833-3754","authenticated-orcid":false,"given":"Albena","family":"Jordanova","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium"},{"name":"Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, 2610 Antwerp, Belgium"},{"name":"Department of Medical Chemistry and Biochemistry, Medical University, 1431 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital \u201cAlexandrovska\u201d, Medical University, 1431 Sofia, Bulgaria"},{"name":"Department of Cognitive Science and Psychology, New Bulgarian University, 1618 Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/336577a0","article-title":"Localization of an ataxiatelangiectasia gene to chromosome 11q22-23","volume":"336","author":"Gatti","year":"1988","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Shao, L., Wang, H., Xu, J., Qi, 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