The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

• Autor(a) principal: Teive,Hélio A.G.
• Data de Publicação: 2001
• Outros Autores: 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.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000500013
• topic: Parkinson's disease; alpha-synuclein; genetics

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.