𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?

✍ Scribed by Ana Djarmati; Katja Hedrich; Marina Svetel; Thora Lohnau; Eberhard Schwinger; Stanka Romac; Peter P. Pramstaller; Vladimir Kostić; Christine Klein

Book ID
102502921
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
125 KB
Volume
21
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

PINK1 mutations cause recessively inherited early‐onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation carriers. Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD.

📜 SIMILAR VOLUMES

Homozygous and heterozygous PINK1 mutati
Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
✍ Cindy Zadikoff; Ekaterina Rogaeva; Ana Djarmati; Christine Sato; Shabnam Salehi- 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 142 KB

## Abstract The first mutations described in __PINK1__ were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with __PINK1__ mutations (homozygous nonsense and heterozygous mi

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