Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1

Lopes‐Cendes, Íscia; Steiner, Carlos Eduardo; Silveira, Isabel; Pinto-Júnior, Walter; Maciel, Jayme Antunes; Rouleau, Guy A.

doi:10.1590/s0004-282x1996000300009

Cited by 2 publications

(1 citation statement)

References 26 publications

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“…The first descriptions of Brazilian patients with SCA1 are relatively recent. All patients attending our reference center in southeastern Brazil have descended from Italian immigrants 21 . The relative frequencies of SCA1 patients in different populations are shown in Table 2 22,23,24 .…”

Section: Demographic Data and Phenotypic Characterizationmentioning

confidence: 99%

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Martins

Borba

Martinez

et al. 2018

Arq. Neuro-Psiquiatr.

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Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

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Section: Demographic Data and Phenotypic Characterizationmentioning

confidence: 99%

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Martins

Borba

Martinez

et al. 2018

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Lopes-Cendesi

Teive

Calcagnotto

et al. 1997

Arq. Neuro-Psiquiatr.

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Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6% in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30% of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

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Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1

Cited by 2 publications

References 26 publications

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

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