OBJECTIVE: Description of the demographic, clinical and neuropathological features of 11 cases of Creutzfeldt-Jakob disease (CJD). METHOD: Review of the clinical and neuropathological features of patients with CJD diagnosed in hospitals in the North of Portugal between 1993 and 2002. RESULTS: Eleven patients were identified, 4 females: mean age of onset of symptoms - 64 years, mean duration of disease - 8 months. All presented with a syndrome of progressive dementia with myoclonus, with four patients presenting with cerebellar signs. Neuropathological examination of brain at autopsy showed spongiosis and reactive gliosis associated with neuronal loss. In eight cases immunocytochemistry for prion protein (PrP) was carried out and was positive. CONCLUSION: The group of patients described represents the heterogeneity of the clinical phenotypes possible in CJD. Neuropathological examination is still indispensable to make the definitive diagnosis of the disease.
Creutzfeldt-Jakob disease; dementia; neuropathology; prion protein (PrP)
