## Abstract Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucineβrich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwester
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
β Scribed by Hon-Chung Fung; Chiung-Mei Chen; John Hardy; Dena Hernandez; Andrew Singleton; Yih-Ru Wu
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 46 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
Abstract
Mutations in the leucineβrich 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 glycineβtoβserine amino acid substitution at codon 2019 in idiopathic Taiwanese PD. The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder. Β© 2006 Movement Disorder Society
π SIMILAR VOLUMES
genes and who were found to be negative. 1 In this group of 122 patients, we identified 5 patients with an FMR1 premutation and in 4 of them a definite diagnosis of fragile Xassociated tremor/ataxia syndrome (FXTAS) could be made, based on the proposed diagnostic criteria for FXTAS. We proposed base
To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only proba
## Abstract To investigate the frequency of mutations in the LeucineβRich Repeat Kinase 2 gene (__LRRK2__) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 add