2004
DOI: 10.1212/01.wnl.0000103290.74549.dc
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Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD

Abstract: The authors present a study on the association of PRNP and PRND gene polymorphisms with the occurrence and age at onset of Alzheimer's disease (AD). DNA from 79 Polish patients with probable AD and 107 healthy control subjects was studied. The PRNP codon 129 homozygosity seemed to be associated with the occurrence of AD: In AD patients, the percentage of Val/Val and Met/Met genotypes was higher than in the control subjects. A significant difference appeared also between early-onset (<70 years) and late-onset (… Show more

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Cited by 44 publications
(38 citation statements)
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“…The VV genotype was highest in Dutch EOAD patients and MM genotype in German AD patient with onset age of 70 or younger (Dermaut et al, 2003;Riemenschneider et al, 2004). Also, in Polish population, the MM and VV genotypes were higher in AD patients (Golanska et al, 2004). On the other hand, a study with Spanish sporadic AD patients showed no association between the homozygosity and AD even after stratifying by ApoE genotype, age at onset, and gender (Combarros et al, 2000).…”
Section: Introductionmentioning
confidence: 83%
“…The VV genotype was highest in Dutch EOAD patients and MM genotype in German AD patient with onset age of 70 or younger (Dermaut et al, 2003;Riemenschneider et al, 2004). Also, in Polish population, the MM and VV genotypes were higher in AD patients (Golanska et al, 2004). On the other hand, a study with Spanish sporadic AD patients showed no association between the homozygosity and AD even after stratifying by ApoE genotype, age at onset, and gender (Combarros et al, 2000).…”
Section: Introductionmentioning
confidence: 83%
“…It may play an antioxidant role by influencing uptake of copper [73]. The PRNP codon 129 influences susceptibility to CJD and also to AD [74][75][76][77]. Individuals who were homozygous for the methionine allele at codon 129 were found to perform cognitively better at age 79 years than those who were heterozygous, in a study that measured cognitive ability at age 11 years and again at 79 years in a Scottish cohort [70].…”
Section: Genes That Influence Brain Ageingmentioning
confidence: 99%
“…Contribution of prion protein in neurodegenerative disorders is also considered. However, while codon 129 polymorphism was found to be related with other neurological diseases, 18,19 no association between SNP 1368 and occurrence of other neurodegenerative disorders was detected. 20,21 Polymorphisms of non-coding region of prion protein gene could act through enhanced expression of PRNP causing increase of prion protein concentration and making PrP conversion more likely.…”
Section: Resultsmentioning
confidence: 92%