A 52-year-old right-handed woman presented with progressive memory difficulties and fatigue for 6 weeks. Her mother had died at the age of 46 years, after 6 months of progressive cognitive impairment. Clinical examination showed an apathic, depressed patient with cerebellar ataxia, supranuclear upgaze palsy, episodic memory impairment, and semantic paraphasias. Mini Mental State score was 19 of 30. Neuropsychological testing showed loss of spontaneity, poor verbal fluency tests, impaired forward and backward digit span, and anterograde amnesia with both recall and recognition difficulties, together with moderate agraphia and ideomotor apraxia. There were no hallucinations. Brain magnetic resonance imaging showed basal ganglia and cortical hyperintensities on fluid-attenuated inversion recovery and diffusion-weighted imaging (Figure 1A-D). Electroencephalography revealed generalized periodic sharp wave complexes with left predominance (Figure 1E). Cerebrospinal fluid examination showed the presence of protein 14-3-3. Fluorine 18–labeled fluorodeoxyglucose positron emission tomography (FDG-PET) showed a marked hypometabolism in the cerebellum, basal ganglia, thalamus, and left cortical hemisphere (Figure 2). Genetic sequencing of the prion protein gene showed the presence of a heterozygote E200K missense mutation and a methionine/methionine polymorphism at codon 129. A diagnosis of familial Creutzfeldt-Jakob disease was made. Neurological deterioration continued and a state of akinetic mutism developed 1 month after admission in the presence of right-sided myoclonus. The patient died 2 weeks later.
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Fluid-attenuated inversion recovery magnetic resonance imaging showing bilateral, symmetrical, hyperintense signal changes (arrows) in the caudal nucleus, putamen (A), and paramedian frontal cortex (B). The same hyperintense structures are seen on diffusion-weighted images (C and D), together with left predominant hyperintensities (arrowheads) in the insular and temporo-occipital (C) and frontoparietal (D) cortices. Generalized periodic sharp-wave complexes are seen on electroencephalography (E).
Axial fluorine 18–labeled fluorodeoxyglucose positron emission tomography (FDG-PET) images show a marked left-sided hypometabolism (white arrows) in the temporal (A) and frontal and parietal (B and C) cortices preserving the paramedian occipital and parietal cortices (B and C, black arrows). Bilateral hypometabolism, with a left predominance, of the basal ganglia and thalamus can be seen (B, black arrowheads). 3-Dimensional FDG-PET reconstruction images (D, lateral view; E, superior view; F, inferior view) confirm the marked left hemispheric hypometabolism, respecting the paramedian occipital and parietal cortices (D, E, and F, white arrows), the sensorimotor cortex (D and E, black arrows), and a part of the prefrontal cortex (D and E, white arrowheads).
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