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Ideggyogy Sz ; 65(11-12): 401-10, 2012 Nov 30.
Article in English | MEDLINE | ID: mdl-23289175

ABSTRACT

The clinical picture, electroencephalographic, imaging and cerebrospinal fluid parameters as well as the molecular background of Creutzfeldt-Jakob disease have been well explored. The diagnostic criteria, offering clinicians a fair chance to identify these patients in vivo, have recently been updated. However, the diagnosis is still a challenge in everyday neurological routine. We report on three of our Creutzfeldt-Jakob patients for calling attention to the classical and the recently defined features of the disease. We conclude that based on the rapidly progressing neuropsychiatric syndrome Creutzfeldt-Jakob disease may be suspected; follow-up EEG may reveal the typical (pseudo)-periodic pattern with progressive deterioration of the background activity. In addition, diffusion-weighted brain MRI imaging (DWI) has high diagnostic value. Detection of 14-3-3 protein in the cerebrospinal fluid supports the in vivo diagnosis.


Subject(s)
Brain/pathology , Creutzfeldt-Jakob Syndrome/diagnosis , Electroencephalography , Magnetic Resonance Imaging , Mutation , Prions/genetics , Aged , Autopsy , Cerebellar Ataxia/etiology , Creutzfeldt-Jakob Syndrome/complications , Creutzfeldt-Jakob Syndrome/genetics , Creutzfeldt-Jakob Syndrome/physiopathology , Diagnosis, Differential , Fatal Outcome , Female , Glutamic Acid , Humans , Lysine , Male , Middle Aged , Prion Proteins , Seizures/etiology , Speech Disorders/etiology
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