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The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease
Teive, Hélio A. G; Raskin, Salmo; Iwamoto, Fábio M; Germiniani, Francisco M. B; Baran, Maria H. H; Werneck, Lineu C; Allan, Nasser; Quagliato, Elizabeth; Leroy, Elisabeth; Ide, Susan E; Polymeropoulos, Mihael H.
Affiliation
  • Teive, Hélio A. G; Federal University of Paraná. Hospital de Clínicas. Neurological Service. Movement Disorders Unit. Curitiba. BR
  • Raskin, Salmo; Genetika- Centro de Aconselhamento e Laboratório de Genética. Curitiba. BR
  • Iwamoto, Fábio M; Federal University of Paraná. Hospital de Clínicas. Neurological Service. Movement Disorders Unit. Curitiba. BR
  • Germiniani, Francisco M. B; Federal University of Paraná. Hospital de Clínicas. Neurological Service. Movement Disorders Unit. Curitiba. BR
  • Baran, Maria H. H; Federal University of Paraná. Hospital de Clínicas. Neurological Service. Movement Disorders Unit. Curitiba. BR
  • Werneck, Lineu C; Federal University of Paraná. Hospital de Clínicas. Neurological Service. Movement Disorders Unit. Curitiba. BR
  • Allan, Nasser; Hospital de Base. Neurological Service. Brasília. BR
  • Quagliato, Elizabeth; Unicamp. Neurological Department. Campinas. BR
  • Leroy, Elisabeth; National Institute of Health. National Human Genome Research Institute. Bethesda. US
  • Ide, Susan E; National Institute of Health. National Human Genome Research Institute. Bethesda. US
  • Polymeropoulos, Mihael H; National Institute of Health. National Human Genome Research Institute. Bethesda. US
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;59(3B): 722-724, Sept. 2001. tab
Article de En | LILACS | ID: lil-295838
Bibliothèque responsable: BR1.1
ABSTRACT
A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families
Sujet(s)
Texte intégral: 1 Indice: LILACS Sujet Principal: Maladie de Parkinson / Mutation / Protéines de tissu nerveux Limites du sujet: Adult / Female / Humans / Male Pays comme sujet: America do sul / Brasil langue: En Texte intégral: Arq. neuropsiquiatr Thème du journal: NEUROLOGIA / PSIQUIATRIA Année: 2001 Type: Article
Texte intégral: 1 Indice: LILACS Sujet Principal: Maladie de Parkinson / Mutation / Protéines de tissu nerveux Limites du sujet: Adult / Female / Humans / Male Pays comme sujet: America do sul / Brasil langue: En Texte intégral: Arq. neuropsiquiatr Thème du journal: NEUROLOGIA / PSIQUIATRIA Année: 2001 Type: Article