𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients

✍ Scribed by Patricia de Carvalho Aguiar; Patricia Silva Lessa; Clecio Godeiro Junior; Orlando Barsottini; Andre Carvalho Felício; Vanderci Borges; Sonia Maria de Azevedo Silva; Roberta Arb Saba; Henrique Ballalai Ferraz; Carlos A. Moreira-Filho; Luiz Augusto F. Andrade

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
77 KB
Volume
23
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

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 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier. © 2008 Movement Disorder Society

📜 SIMILAR VOLUMES

PINK1 mutations in a Brazilian cohort of
PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients
✍ Clecio Godeiro-Junior; Patricia M. de Carvalho-Aguiar; Andre C. Felício; Orlando 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 1 views

## Abstract Data on the frequency of __PINK1__ mutations in Brazilian patients with early‐onset 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

GCH1 in early-onset Parkinson's disease
GCH1 in early-onset Parkinson's disease
✍ Stephanie A. Cobb; Christian Wider; Owen A. Ross; Ignacio F. Mata; Charles H. Ad 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB

## Abstract Mutations in __GTP‐cyclohydrolase 1__ (__GCH1__) cause autosomal dominant dopa‐responsive dystonia (DRD), characterized by childhood‐onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism. Conversely, early‐onset Parkinson's disease (EOP

A genetic cluster of early onset Parkins
A genetic cluster of early onset Parkinson's disease in a Colombian population
✍ Nicolas Pineda-Trujillo; Maria Apergi; Sonia Moreno; William Arias; Suzanne Lesa 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

## Abstract We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have

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

ATP13A2 variants in early-onset Parkinso
ATP13A2 variants in early-onset Parkinson's disease patients and controls
✍ Ana Djarmati; Johann Hagenah; Kathrin Reetz; Susen Winkler; Maria Isabel Behrens 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

## Abstract Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered __ATP13A2__ (__PARK9__) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively s