NR AUUZ
AU Lo,R.Y.; Shyu,W.C.; Li,H.
TI Long-duration sCJD with PRNP codon 129 methionine homozygosity and cerebral cortical plaques
QU Neurology 2006 Jun 27; 66(12): 1944-5
PT case reports; journal article
AB The authors investigated a 40-year-old woman who presented with ataxia and dementia with little progression for over 40 months. The results of a CSF 14-3-3 protein and EEG study did not reveal major abnormalities. Brain MRI showed increased signal intensity over the occipital cortex in diffusion-weighted imaging. To our knowledge, this is the longest MM-type sporadic Creutzfeldt-Jakob disease case with cortical kuru-type plaques.
IN
Die Autoren berichten über eine 40-jährige, Methionin-homozygote Patienten, die nach einer sich anscheinend über 40 Monate hinziehenden Inkubationszeit an einer sporadischen Form der Creutzfeldt-Jakob-Krankheit starb.
MH Adult; Amyloid/*genetics; Brain Diseases/genetics/pathology; Codon/genetics; Creutzfeldt-Jakob Syndrome/*genetics/*pathology; Female; Genetic Predisposition to Disease; Homozygote; Humans; Kuru/classification/genetics/pathology; Methionine/genetics; Mutation; Protein Precursors/*genetics; Senile Plaques/*genetics/pathology; Time Factors
AD Department of Neurology, Neuro-Medical Scientific Center, Buddhist Tzu-Chi General Hospital, Tzu-Chi University, Hualien, Taiwan.
SP englisch
PO USA