Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease

Methionine homozygosity at codon 129 of the prion protein (PrP) gene is a recognized risk factor for the development of sporadic Creutzfeldt-Jakob disease (CJD). Between 64 and 81% of sporadic cases have this genotype.

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Bibliographic Details
Published in:The Lancet (British edition) 1999-05, Vol.353 (9165), p.1673-1674
Main Authors: Alperovitch, A, Zerr, I, Pocchiari, M, Mitrova, E, Cuesta, J de Pedro, Hegyi, I, Collins, S, Kretzschmar, H, van Dujin, C, Will, RG
Format: Article
Language:English
Subjects:
Aged
Aged, 80 and over
Biological and medical sciences
Codon - genetics
Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Syndrome - epidemiology
Creutzfeldt-Jakob Syndrome - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Genes
Genotype
Homozygosity
Homozygote
Humans
Medical research
Medical sciences
Methionine - genetics
Middle Aged
Molecular Epidemiology
Neurology
Prions
Prions - genetics
Risk factors
Spongiform encephalopathies
Valine - genetics
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Description
Summary:Methionine homozygosity at codon 129 of the prion protein (PrP) gene is a recognized risk factor for the development of sporadic Creutzfeldt-Jakob disease (CJD). Between 64 and 81% of sporadic cases have this genotype.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(99)01342-2