## Abstract Pathogenic __PINK1__ mutations have been described in PARK6βlinked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of __PINK1__ mutations in sporadic earlyβonset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to
G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients
β Scribed by H. Deng; W. D. Le; X. Zhang; T. H. Pan; J. Jankovic
- Book ID
- 109337177
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 67 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0001-6314
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## Abstract Data on the frequency of __PINK1__ mutations in Brazilian patients with earlyβonset Parkinson's disease (EOPD) are lacking. The aim of this report was to investigate mutations of the __PINK1__ gene in a cohort of Brazilian patients with EOPD. Sixty consecutive familial or sporadic EOPD
## Abstract The first mutations described in __PINK1__ were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with __PINK1__ mutations (homozygous nonsense and heterozygous mi