NR AVSP
AU Gossrau,G.; Herting,B.; Möckel,S.; Kempe,A.; Koch,R.; Reichmann,H.; Lampe,J.B.
TI Analysis of the polymorphic prion protein gene codon 129 in idiopathic Parkinson's disease
QU Journal of Neural Transmission 2006 Mar; 113(3): 331-7
PT journal article; research support, non-u.s. gov't
AB Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder of unknown aetiology. Histopathological similarities between IPD and Creutzfeldt-Jakob prion disease (CJD) have been suggested. Homozygosity at polymorphic prion protein gene codon 129 (PRNP129) is a risk factor for developing CJD. Therefore we investigated a putative genetic link between CJD and IPD by studying PRNP129 genotype segregation in 81 patients with IPD.We did not ascertain a different PRNP129 genotype distribution in IPD patients compared to healthy Germans. We found a significant difference in PRNP129 genotype in dependence of the clinical predominance type of IPD. Patients with tremor-dominant IPD presented less frequent a methionine homozygosis at PRNP129 than hypokinetic-rigid IPD patients (30% versus 62.5%; p<0.033).In conclusion, genotype distribution at codon 129 is obviously not essential in determining IPD. But our results may provide first evidence of an association between certain PRNP129 polymorphisms and the clinical presentation of IPD.
MH Adult; Age of Onset; Aged; Aged, 80 and over; Brain/*metabolism/pathology/physiopathology; Codon/genetics; Creutzfeldt-Jakob Syndrome/genetics/metabolism/physiopathology; DNA Mutational Analysis; Female; Genetic Predisposition to Disease/*genetics; Genetic Screening; Genotype; Homozygote; Humans; Lewy Bodies/genetics/metabolism; Male; Middle Aged; Mutation/genetics; Parkinson Disease/*genetics/*metabolism/physiopathology; Polymorphism, Genetic/*genetics; Prions/*genetics; Protein Precursors/*genetics; alpha-Synuclein/genetics/metabolism
AD Department of Neurology, University of Technology, Dresden, Germany. ggossrau@uni-bonn.de
SP englisch
PO Österreich