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We described the 20\u00a0years\u2019 experience of a Brazilian reference service with these cases through a retrospective cohort study of subjects evaluated from 2002 to 2020 in a university hospital. Tests for Friedreich ataxia, alpha-fetoprotein, common dominant ataxias, and brain imaging were the first steps, whereas ataxia Sanger panel, exome or genome sequencings (NGS) were the last ones. The outcomes were: diagnosis; no diagnosis after NGS; or incomplete diagnostic investigation. Diagnoses and diagnostic yields were also presented. 174 subjects started investigation and 120 came to the second visit: 45\/120 received a diagnosis, 12\/120 finished their investigation without a diagnosis, and 63\/120 were incompletely investigated. Higher-than-expected proportions of white subjects and of people coming from small communities were found. Most common diagnoses were Friedreich ataxia, ataxia-telangiectasia, Coenzyme Q10 deficiency, Niemann-Pick type C, ataxia with oculoapraxia type 2, and spinocerebellar ataxia type 2. Thirty-two subjects were investigated by NGS; among them, 5\/7 ataxia Sanger panels, 9\/17 exome and 1\/7 genome sequencings got a molecular diagnosis, with diagnostic yields of 71.4%, 52.9% and 14%, respectively. The high proportion of patients lost to follow-up, cases with incomplete investigation and white individuals suggest problems in the access to healthcare. Exome and Sanger panels were the most efficient methods for reaching a diagnosis. The fact they are not easily available in the public health system is an important barrier to overcome, hopefully soon.<\/jats:p>","DOI":"10.1007\/s12311-026-02067-2","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T05:52:23Z","timestamp":1787118743000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil"],"prefix":"10.1007","volume":"25","author":[{"given":"Carlos Alberto Moura","family":"Aschoff","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thiago Oliveira","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Hasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Migliorini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina Carvalho","family":"Donis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Rare Genomes Project Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luiza","family":"Saraiva-Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Leistner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiano","family":"Poswar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina Brinckmann Oliveira","family":"Netto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia","family":"Ashton-Prolla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas Alex Morales","family":"Saute","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura Bannach","family":"Jardim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,8,19]]},"reference":[{"issue":"6","key":"2067_CR1","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1007\/s12311-019-01052-2","volume":"18","author":"M Beaudin","year":"2019","unstructured":"Beaudin M, Matilla-Due\u00f1as A, Soong BW, et al. 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