{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T03:11:03Z","timestamp":1687489863433},"reference-count":13,"publisher":"Akademiai Kiado Zrt.","issue":"22","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:p>Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. In our department, we have been establishing the molecular genetic diagnosis of Friedreich\u2019s ataxia since 2001. We analyzed a total of 221 blood samples from the whole country. Methods: After fragment analysis we performed direct exon sequencing. Results: This study summarizes the retrospective analysis of these genetic test results. Pathological alteration was identified in altogether 26 cases. 2 expanded alleles were found in intron 1 in all 26 genetically confirmed patients; which is not more than 12% of the total analyzed samples. We did exon sequencing in the case of patients having one expanded allele and found no point mutation in any of the cases. Conclusions: In our setting, we could not verify the diagnosis by genetic analysis in a remarkable number of patients, which on one hand underlines the importance of clinical neurologic and clinical genetic analyses before performing tests, and on the other hand, it raises the need to examine the patients for other ataxia types. Orv. Hetil., 2012, 153, 852\u2013855.<\/jats:p>","DOI":"10.1556\/oh.2012.29372","type":"journal-article","created":{"date-parts":[[2012,6,5]],"date-time":"2012-06-05T02:33:24Z","timestamp":1338863604000},"page":"852-855","source":"Crossref","is-referenced-by-count":0,"title":["Molecular genetic diagnostics of Friedreich\u2019s ataxia. Ten years\u2019 experience based on analysis of blood samples"],"prefix":"10.1556","volume":"153","author":[{"given":"P\u00e9ter","family":"Kisfali","sequence":"first","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem, Klinikai K\u00f6zpont, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","volume-title":"Analysis of triplet repeat disorders","year":"1998"},{"key":"atypb2","first-page":"587","volume":"1","year":"1988","journal-title":"Lancet"},{"key":"atypb3","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1093\/brain\/awn269","volume":"132","year":"2009","journal-title":"Brain"},{"key":"atypb4","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/adc.59.3.217","volume":"59","year":"1984","journal-title":"Arch. 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