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

Abstract

Swallowing function in long-term survivors with Creutzfeldt-Jakob disease (CJD) remains unknown. Herein, we demonstrated serial evaluation of swallowing function in a case with V180I genetic CJD (gCJD) using videofluoroscopic examination of swallowing (VF). A 69-year-old woman was admitted to our hospital because of bradykinesia and memory disturbances 4 months after the onset of symptoms. Neurological examination revealed dementia, bradykinesia and frontal signs. Diffusion-weighted MRI revealed bilateral cortical hyperintensity in the frontal, temporal, and parietal cortices, and PRNP gene analysis indicated a V180I mutation. Her dysphagia gradually progressed, and she received percutaneous gastrostomy 42 months after the onset. VF was performed at 27, 31, 39, and 79 months after the onset. Although bolus transport from oral cavity to pharynx gradually worsened and initiation of the pharyngeal swallow was gradually delayed, the pharyngeal swallowing function was preserved even at 72 months after onset. MRI revealed no apparent atrophy of brainstem, and single photon emission computed tomography showed preserved regional cerebral blood flow in the brainstem. These findings suggest that the pathophysiology of dysphagia in a long-term survivor of V180I gCJD is that of pseudobulbar palsy, likely owing to preserved brainstem function even in the akinetic mutism state.

Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt–Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene

“…Some patients with V180I-gCJD have been reported to survive for a long period, up to 198 months (16.5 years). This may be due to tube feeding or very mild brainstem involvement, proven by pathological analysis and imaging biomarkers [ 19 , 27 , 28 , 29 , 30 ].…”

Long-term preservation of pharyngeal swallowing function in MM2-cortical-type sporadic Creutzfeldt-Jakob disease

“…Previous studies reported that the brainstem and cerebellum were preserved in MM2C-type sCJD [1,2] and that these findings supported the diagnosis of pseudobulbar palsy. Some patients with MM2C-type sCJD and V180I gCJD [16] could continue oral intake for a long time even in the akinetic state. The present patient's family wished for her to continue the oral intake of nutrition.…”

Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report

“…To our knowledge, regarding swallowing function evaluation in patients with prion disease, there have been only case reports of one patient each with V1801 genetic Creutzfeldt–Jakob–disease (CJD) [ 12 ] and MM2-cortical-type sporadic CJD [ 13 ]. Moreover, there are no related reports regarding patients with GSS in the Japanese population.…”

“…In our patient, there were problems in the anticipatory, preparatory, and oral stages since she presented with diminished food recognition, no masticatory movements, and decreased oral transport capacity. Moreover, oral stage impairment with preservation of the pharyngeal stage has been described in a patient with V1801 gCJD [ 12 ] and MM2C-type sCJD [ 13 ]. None of the aforementioned patients presented with brainstem atrophy.…”