Creutzfeldt-Jakob disease physical examination

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Creutzfeldt-Jakob disease Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Myoclonus, extrapyramidal signs and cerebellar signs are the most common physical findings in CJD.

Physical Examination

Neurologic

• Speech impairment
• Jerky movements (myoclonus)
• Balance and coordination dysfunction (ataxia)
• Gait disturbances
• Rigid posture
• Seizures

Diagnostic Criteria

Diagnosis of Creutzfeldt Jakob disease is probable if following criteria are fulfilled:

• Rapidly progressive dementia plus at least any 2 of the following features

• Myoclonus
• Visual or cerebellar signs
• Pyramidal and/or extrapyramidal signs
• Akinetic mutism

PLUS
Positive result on one of the following laboratory tests:

• Typical EEG (periodic sharp wave complexes) during an illness of any duration and/or
• A positive 14-3-3 cerebrospinal fluid (CSF) assay in patients with a disease duration of less than 2 years and/or
• Magnetic resonance imaging (MRI): high signal abnormalities in caudate nucleus and/or putamen on diffusion-weighted imaging (DWI) or fluid attenuated inversion recovery (FLAIR).

PLUS
No alternative diagnosis is suspected on routine investigation.

Diagnosis of Creutzfeldt Jakob disease is possible if following criteria are fulfilled:

• Rapidly progressive dementia plus at least any 2 of the following features

• Myoclonus
• Visual or cerebellar signs
• Pyramidal and/or extrapyramidal signs
• Akinetic mutism

PLUS
Absence of a positive result for any of the three laboratory tests that would classify a case as probable (see above). PLUS
Duration of illness is less than two years. PLUS
No alternative diagnosis is suspected on routine investigation.