NR ASIQ
AU Bertrand,A.; Martinez-Almoyna,L.; De Broucker,T.
TI [Hereditary Creutzfeldt-Jakob disease caused by a mutation at codon 200]
OT Maladie de Creutzfeldt-Jakob genetique par mutation du codon 200
QU Revue Neurologique 2005 Mar; 161(3): 351-4
PT case reports; journal article
AB INTRODUCTION: A typical case of genetic Creutzfeldt-Jakob disease in a 39-year-old woman without remarkable familial history is described. CASE REPORT: Initial symptoms were disequilibrium, cerebellar syndrome and complex neurovisual complaints. EEG was pseudoperiodic. NSE and 14-3-3 protein levels were elevated in the CSF. MRI showed anomalies of the anterior parts of the putamen and the caudate nuclei on the MRI T2 FLAIR sequence, mainly on diffusion sequences. A quinacrine test did not yield any effect. Death eventually occurred 8 months after the first symptoms. CONCLUSION: Current data on genetic Creutzfeldt-Jakob disease are briefly reviewed.
MH 14-3-3 Proteins/cerebrospinal fluid; Brain/pathology; Codon/genetics; Creutzfeldt-Jakob Syndrome/*genetics/pathology; Electroencephalography; English Abstract; Enzyme Inhibitors/diagnostic use; Fatal Outcome; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Mutation/physiology; Phosphopyruvate Hydratase/cerebrospinal fluid; Quinacrine/diagnostic use
AD Service de Neurologie, Hopital Delafontaine, Saint-Denis, France.
SP französisch
PO Frankreich