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Prevalence of spinocerebellar ataxia 36 in a US population.
Valera, Juliana M; Diaz, Tatyana; Petty, Lauren E; Quintáns, Beatriz; Yáñez, Zuleima; Boerwinkle, Eric; Muzny, Donna; Akhmedov, Dmitry; Berdeaux, Rebecca; Sobrido, Maria J; Gibbs, Richard; Lupski, James R; Geschwind, Daniel H; Perlman, Susan; Below, Jennifer E; Fogel, Brent L.
Afiliação
  • Valera JM; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Diaz T; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Petty LE; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Quintáns B; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Yáñez Z; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Boerwinkle E; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Muzny D; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Akhmedov D; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Berdeaux R; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Sobrido MJ; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Gibbs R; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Lupski JR; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Geschwind DH; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Perlman S; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Below JE; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
  • Fogel BL; Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Ho
Neurol Genet ; 3(4): e174, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28761930
ABSTRACT

OBJECTIVE:

To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States.

METHODS:

A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene.

RESULTS:

Fragment analysis of triplet repeat primed PCR products identified a GGCCTG hexanucleotide repeat expansion in intron 1 of NOP56 in 4 index cases. These 4 SCA36-positive families comprised 2 distinct ethnic groups white (European) (2) and Asian (Japanese [1] and Vietnamese [1]). Individuals affected by SCA36 exhibited typical clinical features with gait ataxia and age at onset ranging between 35 and 50 years. Patients also suffered from ataxic or spastic limbs, altered reflexes, abnormal ocular movement, and cognitive impairment.

CONCLUSIONS:

In a US population, SCA36 was observed to be a rare disorder, accounting for 0.7% (4/577 index cases) of disease in a large undiagnosed ataxia cohort.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prevalence_studies / Risk_factors_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prevalence_studies / Risk_factors_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article