## Abstract Mutations in the leucineโrich repeat kinase 2 (__LRRK2__) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G>A, which produces a glycineโtoโserine amino acid substitution at cod
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
โ Scribed by Jose Miguel Bras; Rita Joao Guerreiro; Maria Helena Ribeiro; Cristina Januario; Ana Morgadinho; Catarina Resende Oliveira; Luis Cunha; John Hardy; Andrew Singleton
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 70 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-3185
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โฆ Synopsis
Abstract
LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinicโbased sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. ยฉ 2005 Movement Disorder Society
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## Abstract A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic __LRRK2__ mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening i