[Hereditary Creutzfeldt-Jakob disease caused by a mutation at codon 200].
BACKGROUND
A typical case of genetic Creutzfeldt-Jakob disease in a 39-year-old woman without remarkable familial history is described.


METHODS
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.


CONCLUSIONS
Current data on genetic Creutzfeldt-Jakob disease are briefly reviewed.
Bertrand
A
A
Service de Neurologie, Hôpital Delafontaine, Saint-Denis, France.
Martinez-Almoyna
L
L
De Broucker
T
T
D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D001921:Brain / Q000473:pathology; D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D004569:Electroencephalography; D004791:Enzyme Inhibitors; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D010751:Phosphopyruvate Hydratase / Q000134:cerebrospinal fluid; D011796:Quinacrine
D048948:14-3-3 Proteins; D003062:Codon; D004791:Enzyme Inhibitors; D010751:Phosphopyruvate Hydratase; D011796:Quinacrine