Abstract
Creutzfeldt-Jakob disease (CJD) is the most frequent of the human transmissible spongiform encephalopathies. It is clinically characterized by rapidly progressive dementia, myoclonia and ataxia. Familial CJD is uncommon (5-15% of cases) and sometimes it has atypical symptoms and longer clinical course than sporadic CJD. Diagnostic tests recommended when patients present with a clinical picture of CJD are: brain magnetic resonance imaging, electroencephalogram, 14-3-3 protein determination in the cerebrospinal fluid and study of the prionic protein gene (PRNP). The case of a 54-year-old female patient with prolonged depression added to a progressive neurological impairment is presented. Among the complementary tests, cerebrospinal fluid 14-3-3 protein high level and E200K mutation discovered in genetic study were essential to support the diagnosis of familial CJD.
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