Deafness: an unusual onset of genetic Creutzfeldt-Jakob disease.
We describe a case of genetic Creutzfeldt-Jakob disease (CJD) with deafness at the onset. We report clinical features, 14-3-3 protein positivity, electroencephalography and brain stem auditory evoked potential abnormalities, and high signal on magnetic resonance imaging in basal ganglia and temporal cortex. Similarities with CJD Heidenhain variant are discussed.
Department of Neurological Sciences, University of Catania, Italy.
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D048948:14-3-3 Proteins; D001479:Basal Ganglia / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D003638:Deafness / Q000235:genetics*; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D013702:Temporal Lobe / Q000473:pathology; D014446:Tyrosine 3-Monooxygenase / Q000378:metabolism
D048948:14-3-3 Proteins; D014446:Tyrosine 3-Monooxygenase