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Original Research Article

D178N, 129Val and N171S, 129Val Genotype in a Family with Creutzfeldt-Jakob Disease

Appleby B.S.a · Appleby K.K.b, c · Hall R.C.W.d · Wallin M.T.b, c

Author affiliations

aDivision of Geriatric Psychiatry and Neuropsychiatry, Johns Hopkins University School of Medicine, Baltimore, Md., bDepartment of Neurology, Georgetown University Hospital, and cDepartment of Neurology, Veterans Affairs Medical Center, Washington, D.C., and dDepartment of Medical Education for Psychiatry, University of Southern Florida Medical School, Orlando, Fla., USA

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Dement Geriatr Cogn Disord 2010;30:424–431

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Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Accepted: September 25, 2010
Published online: November 12, 2010
Issue release date: December 2010

Number of Print Pages: 8
Number of Figures: 5
Number of Tables: 1

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

For additional information: https://www.karger.com/DEM

Abstract

Background: Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJDD178N,129V) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele. A mutation at codon 171 of the PRNP gene has been described in a family with a strong psychiatric history without prion disease. Methods: Clinical and genetic information of a family with CJD was obtained from medical records and family informants. Results: We identified an African-American family with molecular and genetically confirmed CJDD178N,129V that also carried the N171S, 129V polymorphism and had a strong psychiatric clinical presentation. Conclusion: This is a complex family that carries the D178N, 129V and N171S, 129V genotype. This report is the first description of both genotypes occurring within a family with genetic human prion disease.

© 2010 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Research Article

Accepted: September 25, 2010
Published online: November 12, 2010
Issue release date: December 2010

Number of Print Pages: 8
Number of Figures: 5
Number of Tables: 1

ISSN: 1420-8008 (Print)
eISSN: 1421-9824 (Online)

For additional information: https://www.karger.com/DEM


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