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Article

Current clinical diagnosis in Creutzfeldt-Jakob disease: identification of uncommon variants.

Annals of neurology - 1 Sept 2000

Zerr I, Schulz-Schaeffer W J, Giese A, Bodemer M, Schröter A, Henkel K, Tschampa H J, Windl O, Pfahlberg A, Steinhoff B J, Gefeller O, Kretzschmar H A, Poser S

Abstract excerpt

According to the recently established molecular basis for phenotypic heterogeneity of sporadic Creutzfeldt-Jakob disease (CJD), six different phenotypes are characterized by the size of the protease-resistant fragment of the pathological prion protein (types 1 and 2) and homozygosity or heterozygosity for methionine or valine at codon 129 of the prion protein gene (designated by MM1, MM2, MV1, MV2, W1, and W2)....

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PMID: 10976638

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