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

Arquivos de Neuro-Psiquiatria

Hélio A.g. Teive²  Salmo Raskin¹  Fábio M. Iwamoto²  Francisco M.b. Germiniani²  Maria H.h. Baran²  Lineu C. Werneck²  Nasser Allan¹  Elizabeth Quagliato¹  Elisabeth Leroy¹  Susan E. Ide¹  Mihael H. Polymeropoulos¹ 

[1] ,Federal University of Paraná Hospital de Clínicas Neurological ServiceCuritiba PR ,Brasil

关键词: Parkinson's disease;    alpha-synuclein;    genetics;    doença de Parkinson;    alfa-sinucleína;    genética molecular;   

DOI  :  10.1590/S0004-282X2001000500013

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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