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Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.
Schmouth, Jean-François; Houle, Gabrielle; Ambalavanan, Amirthagowri; Leblond, Claire S; Spiegelman, Dan; Laurent, Sandra B; Bourassa, Cynthia V; Panisset, Michel; Chouinard, Sylvain; Dupré, Nicolas; Vilariño-Güell, Carles; Rajput, Alex; Dion, Patrick A; Rouleau, Guy A.
Afiliação
  • Schmouth JF; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Houle G; Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
  • Ambalavanan A; Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
  • Leblond CS; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Spiegelman D; Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
  • Laurent SB; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Bourassa CV; Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
  • Panisset M; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Chouinard S; Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
  • Dupré N; Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
  • Vilariño-Güell C; Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
  • Rajput A; Centre Hospitalier Universitaire de Montréal-Hotel Dieu, Movement Disorders Unit, CHUM, Montreal, Quebec, Canada.
  • Dion PA; Centre Hospitalier Universitaire de Montréal-Hotel Dieu, Movement Disorders Unit, CHUM, Montreal, Quebec, Canada.
  • Rouleau GA; Department of Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada.
Mol Neurobiol ; 56(6): 4317-4321, 2019 Jun.
Article em En | MEDLINE | ID: mdl-30315477
Essential Tremor is a prevalent neurological disorder of unknown etiology. Studies suggest that genetic factors contribute to this pathology. To date, no causative mutations in a gene have been reproducibly reported. All three structures of the olivocerebellar motor circuitry have been linked to Essential Tremor. We postulated that genes enriched for their expression in the olivocerebellar circuitry would be more susceptible to harbor mutations in Essential Tremor patients. A list of 11 candidate genes, enriched for their expression in the olivocerebellar circuitry, was assessed for their variation spectrum and frequency in a cohort of Canadian Essential Tremor cases. Our results from this list of 11 candidate genes do not support an association for Essential Tremor in our cohort of Canadian cases. The heterogenic nature of ET and modest size of the cohort used in this study are two confounding factors that could explain these results.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Filogenia / Cerebelo / Sequência Conservada / Mutação de Sentido Incorreto / Tremor Essencial / Córtex Motor Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Aged / Humans / Middle aged País/Região como assunto: America do norte Idioma: En Revista: Mol Neurobiol Assunto da revista: BIOLOGIA MOLECULAR / NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Filogenia / Cerebelo / Sequência Conservada / Mutação de Sentido Incorreto / Tremor Essencial / Córtex Motor Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Aged / Humans / Middle aged País/Região como assunto: America do norte Idioma: En Revista: Mol Neurobiol Assunto da revista: BIOLOGIA MOLECULAR / NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá