Analysis of the parkin deletion in sporadic and familial Parkinson's disease

Recently a mutation in the parkin gene has been identified as the cause for an autosomal-recessively inherited form of early onset Parkinson's disease (EOPD). The disease causing minimal deletion has been defined as a homozygous exon 4 loss in the parkin gene among Japanese patients. We investi...

Full description

Saved in:
Bibliographic Details
Published in:Journal of Neural Transmission 1999-03, Vol.106 (2), p.159-163
Main Authors: KRÜGER, R, VIEIRA-SÄCKER, A. M. M, KUHN, W, MÜLLER, T, WOITALLA, D, SCHÖLS, L, PRZUNTEK, H, EPPLEN, J. T, RIESS, O
Format: Article
Language:English
Subjects:
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Medical sciences
Neurology
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Recently a mutation in the parkin gene has been identified as the cause for an autosomal-recessively inherited form of early onset Parkinson's disease (EOPD). The disease causing minimal deletion has been defined as a homozygous exon 4 loss in the parkin gene among Japanese patients. We investigated 140 sporadic and familial EOPD patients of German ancestry for the exon 4 deletion in the parkin gene. None of our patients exhibited a homo-zygous deletion of exon 4, suggesting a minor role of this mutation for EOPD in Caucasians. Nevertheless a detailed mutation analysis is warranted to explore the overall significance of mutations in the parkin gene in EOPD.
ISSN:0300-9564
1435-1463
DOI:10.1007/s007020050148