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Phenotypic heterogeneity and genetic modifiers in prion disease caused by a Pro102Leu mutation in the PRNP gene

Neumann, M (2009). Phenotypic heterogeneity and genetic modifiers in prion disease caused by a Pro102Leu mutation in the PRNP gene. Nature Clinical Practice Neurology, 5(2):68-69.

Abstract

This Practice Point commentary describes the findings of a study by Webb et al. in which the researchers investigated phenotypic heterogeneity and disease-modifying factors in a large series of patients with inherited prion disease caused by a mutation in the PRNP gene that results in a Pro102Leu amino acid substitution. This mutation is traditionally associated with Gerstmann-Sträussler-Scheinker syndrome (GSS), and the clinical presentation in most patients in the study fitted into the GSS spectrum, but a subset presented with prominent cognitive impairment. In addition, the authors noted remarkable interfamilial and intrafamilial variability with respect to age at disease onset (range 27-66 years) and disease duration (range 7-132 months). Importantly, a polymorphism at PRNP codon 129 and the apolipoprotein E genotype were both identified as factors that modified the age at onset. These findings could have important implications for genetic counseling of individuals at risk from prion disease.

Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Neurology (clinical)
Life Sciences > Cellular and Molecular Neuroscience
Language:English
Date:February 2009
Deposited On:05 Feb 2009 12:28
Last Modified:02 Nov 2024 02:37
Publisher:Nature Publishing Group
ISSN:1745-834X
OA Status:Closed
Publisher DOI:https://doi.org/10.1038/ncpneuro0998
PubMed ID:19092795

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