Authors: Anna Krasnianski Nicolas von Ahsen Uta Heinemann Bettina Meissner Hans A Kretzschmar Victor W Armstrong Inga Zerr
Publish Date: 2007/09/11
Volume: 34, Issue: 1, Pages: 45-50
Abstract
We analyzed the ApoE genotype in patients with genetic prion diseases gPD with respect to family history FH of dementia/prion disease PD compared to nondemented controls Fiftynine gPD patients and 51 sex/agematched controls were included A positive FH of dementia and PD PFH were evaluated The prion protein gene PRNP codon 129 and ApoE genotype were determined by polymerase chain reaction PCR The frequency of FH of neurodegenerative disorder/prion disease/dementia varied in different PRNP mutations PFH was found in 87 of D178N patients but was rarer in others Although the ApoE genotype distribution was not significantly different between gPD patients and controls the protective E2 alleles were more frequent in controls than in patients without a PFH and even less frequent in those with a PFH 18 16 and 11 E4 alleles as a risk factor of Alzheimer’s disease were more common in controls and patients with a PFH than in those without PFH 25 21 and 13 No effect of the codon 129 genotype was detected Only about twothirds of gPD patients had PFH of PD while in onethird PFH of slowly progressive dementia was reported Underreporting of PFH of gPD may play a role however the varying PFH frequency across various mutations is not explained by this factor onlyWe thank Ms Bodemer Ms Ciesielczyk Ms Hartung Ms Henn and Ms Staniszewski for technical assistance The assistance of Ms Ehrlich is gratefully acknowledged This study was supported by grants from the Federal Ministry of Health and Social Security 325447102/15 the European Commission QLG3CT200281606 and the Federal Ministry of Education and Research 01GI0301
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