𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease

✍ Scribed by Maria G. Macedo; Dagmar Verbaan; Yue Fang; Stephanie M. van Rooden; Martine Visser; Burcu Anar; Antonella Uras; Justus L. Groen; Patrizia Rizzu; Jacobus J. van Hilten; Peter Heutink

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
115 KB
Volume
24
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ‐1, PINK1, LRRK2, and SNCA genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers. A total of 187 unrelated Dutch EOPD patients (age at onset ≤ 50 years) were phenotyped and screened for mutations in all exons of Parkin, DJ‐1, and PINK1 by direct sequencing and gene dosage analysis. Additionally, analysis of the A30P mutation and exon dosage of SNCA and sequencing of exons 19,31,35,38,41, and 48 of LRRK2 was performed. Pathogenic variations could explain disease in 4% (7 of 187) of the patients including five patients carrying homozygous or compound heterozygous mutations in Parkin, one with a novel homozygous deletion in DJ‐1 (P158Del) and one with a heterozygous mutation in LRRK2 (T2356I). We found seven novel mutations. The phenotypic characteristics of mutation carriers varied widely, comparable to the variability seen in sporadic EOPD. Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ‐1, PINK1 and LRRK2. The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution. © 2008 Movement Disorder Society

📜 SIMILAR VOLUMES

Genotype–phenotype correlates in Taiwane
Genotype–phenotype correlates in Taiwanese patients with early-onset recessive parkinsonism
✍ Ming-Jen Lee; Ignacio F. Mata; Chin-Hsien Lin; Kai-Yuan Tzen; Sarah J. Lincoln; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 438 KB

## Abstract We screened for mutations in the __PARKIN__, __DJ‐1__, and __PINK1__ genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in __PARKIN__ (three compound heterozygou

Novel parkin mutations detected in patie
Novel parkin mutations detected in patients with early-onset Parkinson's disease
✍ Aida M. Bertoli-Avella; José L. Giroud-Benitez; Ali Akyol; Egberto Barbosa; Onno 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB

## Abstract A multiethnic series of patients with early‐onset Parkinson's disease (EOP) was studied to assess the frequency and nature of __parkin__/PARK2 gene mutations and to investigate phenotype–genotype relationships. Forty‐six EOP probands with an onset age of <45 years, and 14 affected relat

Genetic and environmental findings in ea
Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients
✍ Patricia de Carvalho Aguiar; Patricia Silva Lessa; Clecio Godeiro Junior; Orland 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 77 KB 👁 1 views

## Abstract Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early‐onset PD (EOPD) patients for mutations in __PARK2__ and __PARK8__, exposure to environmental factors and possible correlations between __PARK2_

Familial aggregation of early- and late-
Familial aggregation of early- and late-onset Parkinson's disease
✍ Karen Marder; Gilberto Levy; Elan D. Louis; Helen Mejia-Santana; Lucien Cote; Ho 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 91 KB 👁 2 views

The role of heredity in early- versus late-onset Parkinson's disease (PD) is controversial. We estimated the degree of increased risk of PD in first-degree relatives of 221 PD probands with age of onset 50 years or younger and 266 PD probands with age of onset older than 50 years compared with the f