Long-duration sCJD with PRNP codon 129 methionine homozygosity and cerebral cortical plaques.
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.
Lo
Raymond Yen-Yu
RY
Department of Neurology, Neuro-Medical Scientific Center, Buddhist Tzu-Chi General Hospital, Tzu-Chi University, Hualien, Taiwan.
Shyu
Woei Cherng
WC
Li
Hung
H
D000328:Adult; D000682:Amyloid / Q000235:genetics*; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology; D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D007729:Kuru / Q000145:classification / Q000235:genetics / Q000473:pathology; D008715:Methionine / Q000235:genetics; D009154:Mutation; D058225:Plaque, Amyloid / Q000235:genetics* / Q000473:pathology; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*; D013997:Time Factors
D000682:Amyloid; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors; D008715:Methionine