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alpha-Synuclein promoter confers susceptibility to Parkinson's disease.
Pals, Philippe; Lincoln, Sarah; Manning, Jonathan; Heckman, Michael; Skipper, Lisa; Hulihan, Mary; Van den Broeck, Marleen; De Pooter, Tim; Cras, Patrick; Crook, Julia; Van Broeckhoven, Christine; Farrer, Matt J.
Afiliação
  • Pals P; Department of Molecular Genetics VIB8, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium.
Ann Neurol ; 56(4): 591-5, 2004 Oct.
Article em En | MEDLINE | ID: mdl-15455394
ABSTRACT
Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the alpha-synuclein gene (SNCA). Genetic variability within SNCA has been implicated in idiopathic PD in many populations. We now confirm and extend these findings, within a Belgian sample, using a high-resolution map of genetic markers across the SNCA locus. Our study implicates the SNCA promoter in susceptibility to PD, and more specifically defines a minimum promoter haplotype, spanning approximately 15.3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment.
Assuntos
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Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Regiões Promotoras Genéticas / Suscetibilidade a Doenças / Proteínas do Tecido Nervoso Tipo de estudo: Observational_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Bélgica
Buscar no Google
Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Regiões Promotoras Genéticas / Suscetibilidade a Doenças / Proteínas do Tecido Nervoso Tipo de estudo: Observational_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Bélgica