𝔖 Bobbio Scriptorium
✦   LIBER   ✦

G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia

✍ Scribed by Sofya N. Pchelina; Andrei F. Yakimovskii; Olga N. Ivanova; Anton K. Emelianov; Andrei H. Zakharchuk; Alexander L. Schwarzman

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
80 KB
Volume
21
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine‐rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group. © 2006 Movement Disorder Society

📜 SIMILAR VOLUMES

Lack of G2019S LRRK2 mutation in a cohor
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
✍ Hon-Chung Fung; Chiung-Mei Chen; John Hardy; Dena Hernandez; Andrew Singleton; Y 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB

## Abstract Mutations in the leucine‐rich 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 glycine‐to‐serine amino acid substitution at cod

High prevalence of LRRK2 mutations in fa
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
✍ Joaquim J. Ferreira; Leonor Correia Guedes; Mário Miguel Rosa; Miguel Coelho; Ma 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 122 KB 👁 1 views

## Abstract Mutations in the __Leucine‐Rich Repeat Kinase 2__ (__LRRK2__) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent __LRRK2__ mutations (R1441

Frequency and phenotypes of LRRK2 G2019S
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
✍ Roberta Marongiu; Daniele Ghezzi; Tamara Ialongo; Francesco Soleti; Antonio Elia 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

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

MAPK-pathway activity, Lrrk2 G2019S, and
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
✍ Linda R. White; Mathias Toft; Sylvia N. Kvam; Matthew J. Farrer; Jan O. Aasly 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB

## Abstract The __6055G>A__ mutation in the __leucine‐rich repeat kinase 2__ (__LRRK2__) gene results in a G2019S substitution in the mixed‐lineage kinase domain of Lrrk2, causing autosomal dominant Parkinson's disease (PD). We hypothesized the mutation alters cellular mitogen‐activated protein kin

The G2019S LRRK2 mutation in Brazilian p
The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins
✍ Renato P. Munhoz; Yosuke Wakutani; Connie Marras; Helio A. Teive; Salmo Raskin; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB

## Abstract Mutations in the Leucine‐Rich Repeat Kinase 2 gene (__LRRK2__) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of __LRRK2__ kindreds demonstrate an extremely