A case of V180I genetic Creutzfeldt-Jakob disease presenting with conspicuous facial mimicry

Abstract

Although there have been no reports of facial mimicry in patients with Creutzfeldt-Jakob disease (CJD), we encountered a patient with genetic CJD with prion protein gene codon 180 mutation (V180I gCJD) who apparently showed this interesting clinical finding. The patient was an 87-yearold Japanese woman, and the first observed CJD symptom was poor spontaneity. She gradually showed cognitive dysfunction and subsequently gait disturbance. A prion protein gene analysis revealed a V180I mutation with methionine homozygosity at codon 129. Facial mimicry was observed 7 months after disease onset and continued for approximately 9 months. Pathological laughing and startle reaction were also observed during approximately the same period, whereas myoclonus was observed at a later stage, 12 months after disease onset, and was very mild in degree. Electroencephalography studies showed a diffuse slow basic pattern without periodic sharp wave complexes. Diffusion-weighted magnetic resonance imaging showed extensive hyperintensity in the cerebral cortex, and there was also hyperintensity with edematous swelling in the same regions on T2-weighted and fluid-attenuated inversion recovery images. On the basis of the magnetic resonance imaging findings and the findings of previous case reports of V180I gCJD, we speculate that the characteristic extensive cerebrocortical involvement observed in V180I gCJD was implicated in the pathogenesis of the facial mimicry observed in this case.

Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease

“…To better understand dysphagia in V180I gCJD patients, we reviewed articles that described nutritional administration methods for ten patients including the current patient ( Table 1 ) [ 6 , 8 , 12 , 14 – 17 ]. Six of the ten patients (60%) could orally intake food after deteriorating to the state of akinetic mutism.…”

A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset

“…After presenting with cortical dysfunction, abnormal DWI findings were detected. Almost all V180I gCJD patients present with MRI abnormalities such as a swollen cerebral cortex in T2-weighted images and cortical hyperintense signals in DWI [1,2,[5][6][7]27]. Some reports suggest that the abnormal cortical high-intensity signals in DWI may reflect spongiform changes, especially various-sized and nonconfluent vacuoles, in the cerebral cortex of patients with V180I gCJD [4,25,28].…”

“…Some reports suggest that the abnormal cortical high-intensity signals in DWI may reflect spongiform changes, especially various-sized and nonconfluent vacuoles, in the cerebral cortex of patients with V180I gCJD [4,25,28]. Indeed, most V180I gCJD patients with cortical highintensity signals show cortical dysfunction [1,2,[5][6][7]27]. Furthermore, a patient with V210I gCJD, whose initial symptom was spastic paralysis, did not show any abnormal MRI findings and only showed atrophy of the corticospinal tract in diffusion tensor imaging [12].…”

“…The clinical features of V180I gCJD are: 1) older onset age (late 70s); 2) slower progression; 3) characteristic clinical symptoms such as more frequent higher cortical dysfunction, less visual or cerebellar symptoms, less myoclonic jerks, and less pyramidal signs compared with sporadic (sCJD); 4) a lower positive rate of brain-specific proteins such as neuron-specific enolase, 14-3-3 protein, total tau protein, and real-time quaking-induced conversion (RT-QUIC) assay in cerebrospinal fluid (CSF); and 5) absence of periodic synchronous discharges in electroencephalography throughout the clinical course [1][2][3][4][5][6][7].…”

“…Despite being a genetic disease, patients with V180I CJD rarely have a family history, and only 5.9% of patients have a family history of dementia [2]. Although the initial symptoms in V180I gCJD vary in each case, most cases present with cortical dysfunction such as disorientation, aphasia, and apraxia [2,[4][5][6][7][8]. Therefore, patients with gCJD are often misdiagnosed with dementia such as Alzheimer's disease.…”