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PMID: 16755580 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?

Movement disorders : official journal of the Movement Disorder Society ·Vol. 21 ·No. 9 ·2006-09-00 ·Pages 1526-30

Djarmati A, Hedrich K, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostić V, Klein C

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.

MeSH Terms

Adolescent Adult DNA Mutational Analysis Female Genetic Carrier Screening Genetic Predisposition to Disease/genetics Germany Humans Intracellular Signaling Peptides and Proteins/genetics Male Middle Aged Mutation, Missense Neurologic Examination Oncogene Proteins/genetics Parkinson Disease/diagnosis,genetics Pedigree Protein Deglycase DJ-1 Protein Kinases/genetics Ubiquitin-Protein Ligases/genetics Yugoslavia

Chemicals

Intracellular Signaling Peptides and Proteins Oncogene Proteins Ubiquitin-Protein Ligases parkin protein Protein Kinases PTEN-induced putative kinase PARK7 protein, human Protein Deglycase DJ-1

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Djarmati Ana

Department of Neurology, University of Lübeck, Lübeck, Germany.

Hedrich Katja

Svetel Marina

Lohnau Thora

Schwinger Eberhard

Romac Stanka

Pramstaller Peter P

Kostić Vladimir

Klein Christine

Article Info

Journal

Movement disorders : official journal of the Movement Disorder Society

Abbr.

Mov Disord

ISSN

0885-3185

DOI

10.1002/mds.20977

Published

2006-09-00

Pages

1526-30

Language

English

Region

United States

NLM ID

8610688

Subset

External Links

PubMed source DOI: 10.1002/mds.20977 View journal details

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