Deafness: an unusual onset of genetic Creutzfeldt-Jakob disease

M L Cataldi; O Restivo; E Reggio; D A Restivo; A Reggio

doi:10.1007/s100720070119

Deafness: an unusual onset of genetic Creutzfeldt-Jakob disease

Neurol Sci. 2000 Feb;21(1):53-5. doi: 10.1007/s100720070119.

Authors

M L Cataldi¹, O Restivo, E Reggio, D A Restivo, A Reggio

Affiliation

¹ Department of Neurological Sciences, University of Catania, Italy.

PMID: 10938203
DOI: 10.1007/s100720070119

Abstract

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.

Publication types

Case Reports

MeSH terms

14-3-3 Proteins
Basal Ganglia / pathology
Creutzfeldt-Jakob Syndrome / diagnosis
Creutzfeldt-Jakob Syndrome / genetics*
Creutzfeldt-Jakob Syndrome / metabolism
Deafness / genetics*
Electroencephalography
Evoked Potentials, Auditory, Brain Stem
Female
Humans
Magnetic Resonance Imaging
Middle Aged
Temporal Lobe / pathology
Tyrosine 3-Monooxygenase / metabolism

Substances

14-3-3 Proteins
Tyrosine 3-Monooxygenase