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Genetic analysis of hereditary ataxias in Peru identifies SCA10 families with incomplete penetrance

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dc.contributor.author Cornejo-Olivas, M.
dc.contributor.author Inca-Martinez, M.
dc.contributor.author Castilhos, R.M.
dc.contributor.author Furtado, G.V.
dc.contributor.author Mattos, E.P.
dc.contributor.author Bampi, G.B.
dc.contributor.author Leistner-Segal, S.
dc.contributor.author Marca, V.
dc.contributor.author Mazzetti, P.
dc.contributor.author Saraiva-Pereira, M.L.
dc.contributor.author Jardim, L.B.
dc.contributor.author Rede Neurogenetica
dc.date.accessioned 2020-07-14T00:01:05Z
dc.date.available 2020-07-14T00:01:05Z
dc.date.issued 2020
dc.identifier.uri https://hdl.handle.net/20.500.12866/8269
dc.description.abstract Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ataxia (FRDA), among cases series of ataxic individuals from Peru. Among ataxic index cases from 104 families (38 of them with and 66 without autosomal dominant pattern of inheritance), we identified 22 SCA10, 8 SCA2, 3 SCA6, 2 SCA3, 2 SCA7, 1 SCA1, and 9 FRDA cases (or families). SCA10 was by far the most frequent one. Findings in SCA10 and FRDA families were of note. Affected genitors were not detected in 7 out of 22 SCA10 nuclear families; then overall maximal penetrance of SCA10 was estimated as 85%; in multiplex families, penetrance was 94%. Two out of nine FRDA cases carried only one allele with a GAA expansion. SCA10 was the most frequent hereditary ataxia in Peru. Our data suggested that ATTCT expansions at ATXN10 might not be fully penetrant and/or instability between generations might frequently cross the limits between non-penetrant and penetrant lengths. A unique distribution of inherited ataxias in Peru requires specific screening panels, considering SCA10 as first line of local diagnosis guidelines. en_US
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartofseries Cerebellum
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Peru en_US
dc.subject CAG repeats en_US
dc.subject Friedreich ataxia en_US
dc.subject Inherited ataxias en_US
dc.subject Penetrance en_US
dc.subject Spinocerebellar ataxia en_US
dc.title Genetic analysis of hereditary ataxias in Peru identifies SCA10 families with incomplete penetrance en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1007/s12311-019-01098-2
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.25
dc.relation.issn 1473-4230


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