{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:28:23Z","timestamp":1790504903608,"version":"4.1.0"},"reference-count":17,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:p>The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.<\/jats:p>","DOI":"10.1590\/0004-282x20140192","type":"journal-article","created":{"date-parts":[[2015,1,17]],"date-time":"2015-01-17T15:46:32Z","timestamp":1421509592000},"page":"18-21","source":"Crossref","is-referenced-by-count":10,"title":["Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias"],"prefix":"10.1590","volume":"73","author":[{"given":"Marcus Vinicius Cristino de","family":"Albuquerque","sequence":"first","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Braga Neto","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil; Universidade Estadual do Cear\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlando Graziani Povoas","family":"Barsottini","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"issue":"5","key":"ref1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S1474-4422(04)00737-9","article-title":"Autossomal dominant cerebelar ataxias: clinical features, genetics and pathogenesis","volume":"3","author":"Sch\u00f6ls L","year":"2004","journal-title":"Lancet Neurol"},{"issue":"4","key":"ref2","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1590\/S0004-282X2009000600035","article-title":"Spinocerebellar ataxias","volume":"67","author":"Teive HAG","year":"2009","journal-title":"Arq 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