Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication.
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.
Krüger
R
R
Department of Human Molecular Genetics, Ruhr-University, Bochum, Federal Republic of Germany.
Vieira-Säcker
A M
AM
Kuhn
W
W
Müller
T
T
Woitalla
D
D
Schöls
L
L
Przuntek
H
H
Epplen
J T
JT
Riess
O
O
D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive; D005858:Germany; D006720:Homozygote; D006801:Humans; D008025:Ligases; D008875:Middle Aged; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D044767:Ubiquitin-Protein Ligases
D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases