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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-12619

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.

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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.


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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
Date:February 2009
Deposited On:05 Feb 2009 12:28
Last Modified:05 Apr 2016 12:57
Publisher:Nature Publishing Group
Publisher DOI:10.1038/ncpneuro0998
PubMed ID:19092795

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