Premium
Sporadic Creutzfeldt‐Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype
Author(s) -
Head Mark W.,
Tissingh Gerrit,
Uitdehaag Bernard M. J.,
Barkhof Frederik,
Bunn Tristan J. R.,
Ironside James W.,
Kamphorst Wouter,
Scheltens Philip
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.1100
Subject(s) - prnp , valine , phenotype , disease , gene , creutzfeldt jakob syndrome , prion protein , differential diagnosis , biology , clinical phenotype , genetics , medicine , pathology , virology , amino acid
Abstract A case of sporadic Creutzfeldt‐Jakob disease (sCJD) is described in a young Dutch protein prion gene (PRNP) codon 129 valine homozygote. Certain clinical and molecular features of this case overlap those of variant CJD. The case highlights possible difficulties in the differential diagnosis of vCJD and the more rare sCJD subtypes based on molecular features alone.