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Article (Scientific journals)
Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication.
Krüger, Rejko; Vieira-Sacker, A. M.; Kuhn, W. et al.
1999In Journal of Neural Transmission, 106 (2), p. 159-63
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Keywords :
Adult; Age of Onset; DNA Mutational Analysis; Exons/genetics; Genes, Recessive; Germany; Homozygote; Humans; Ligases; Middle Aged; Parkinson Disease/diagnosis/genetics; Polymerase Chain Reaction; Proteins/genetics; Sequence Deletion; Ubiquitin-Protein Ligases
Abstract :
[en] Recently a mutation in the parking 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 homozygous 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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
Krüger, Rejko ;  University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit
Vieira-Sacker, A. M.
Kuhn, W.
Muller, T.
Woitalla, D.
Schols, L.
Przuntek, H.
Epplen, J. T.
Riess, O.
Language :
English
Title :
Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication.
Publication date :
1999
Journal title :
Journal of Neural Transmission
ISSN :
0300-9564
Volume :
106
Issue :
2
Pages :
159-63
Peer reviewed :
Peer reviewed
Available on ORBilu :
since 27 June 2014

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