Sporadic Creutzfeldt-Jakob disease presenting with isolated progressive non-fluent aphasia in a young woman

Excerpt

Creutzfeldt-Jakob disease (CJD) belongs to a family of neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases. Sporadic (sCJD), the most common form, occurs at an incidence of 1/100.0000/year. Onset usually occurs in the seventh decade of life, and life expectancy is about 5 months. Clinically, sCJD is characterized by a rapidly progressive dementia, myoclonus, visual, or cerebellar disturbances, pyramidal or extrapyramidal signs, and akinetic mutism [1]. Brain MRI can support the clinical diagnosis of sCJD showing signal hyperintensity at the FLAIR/DWI sequences in caudate/putamen and/or in at least two regions among the temporal, parietal, and occipital cortex [2, 3]. Here, we report a young woman with isolated language impairment and left basal ganglia MRI-DWI alterations. Probable sCJD was diagnosed in vivo with detection of prion protein (PrP) seeding activity through Real-Time Quaking-Induced Conversion (RT-QuIC) in CSF and olfactory mucosa (OM) samples. …