Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease

Hayashi, Yuichi; Iwasaki, Yasushi; Waza, Masahiro; Akagi, Akio; Kimura, Akio; Ishii, Takashi; Satoh, Katsuya; Kitamoto, Tetsuyuki; Yoshida, Mari; Shimohata, Takayoshi

doi:10.1080/19336896.2020.1739603

Cited by 11 publications

(31 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Serial SPECT studies indicate preserved rCBF in the brainstem and cerebellum [8]. According to previous reports of autopsy-verified V180I gCJD patients, while diffuse spongiform changes were observed in the cerebral cortex, cerebellar and brainstem lesions were absent or mild despite the prolonged duration of the disease [5][6][7]11,12]. The absence of vocal cord paralysis in VE of this patient also supported preserved brainstem function.…”

Section: Discussionsupporting

confidence: 79%

“…Its clinical characteristics are unique: elderly-onset, slow progressive course, sporadic fashion, and cortical oedematous hyperintensity on diffusion-weighted magnetic resonance imaging (DW-MRI) [4,5]. The average disease duration in V180I gCJD is 23-27 months [5]; however, long-term survivors (more than 5 years) have also been reported [6,7]. Appropriate care for dysphagia, a symptom of gCJD, is considered a factor that enables long-term survival of these patients [6].…”

Section: Introductionmentioning

confidence: 99%

“…The average disease duration in V180I gCJD is 23-27 months [5]; however, long-term survivors (more than 5 years) have also been reported [6,7]. Appropriate care for dysphagia, a symptom of gCJD, is considered a factor that enables long-term survival of these patients [6]. However, the swallowing function of a long-term survivor of V180I gCJD patient remains unknown.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Kunieda

Hayashi

Yamada

et al. 2020

Prion

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 79%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Kunieda

Hayashi

Yamada

et al. 2020

Prion

Self Cite

View full text Add to dashboard Cite

show abstract

“…[9][10][11] Long-term survivors have been reported to have either sCJD or vCJD. 9,[12][13][14] The aims of this prospective study are (1) to report all forms of human prion diseases identified in Taiwan; (2) to calculate the temporal trends in incidence by gender and age; and (3) to assess the mortality rate and disease duration.…”

Section: Introductionmentioning

confidence: 99%

<p>Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017</p>

Sun¹,

Liu²,

Fan³

et al. 2020

CLEP

View full text Add to dashboard Cite

Introduction: Epidemiologic studies of Creutzfeldt-Jakob disease (CJD) have been undertaken worldwide since the new variant CJD outbreak in 1996 in the United Kingdom. A nationwide report system, the Creutzfeldt-Jakob Disease Surveillance Unit (CJDSU), directed by the Centers for Disease Control of Taiwan, was established in 1997 to identify human prion diseases. Methods: From 1998 to 2017, 647 cases were referred to the committee for confirmation. The report to CJDSU included a structured questionnaire recording the clinical, demographic data, and potential iatrogenic exposure, and the results of the clinical and laboratory examination, including tests of blood and cerebrospinal fluid, electroencephalography, and brain magnetic resonance imaging. Results: In total, 356 cases (women, n=178) were ascertained to be human prion diseases, and 97.4% (n=347) were sporadic CJD, including three definite, 314 probable, and 30 possible cases; one probable variant CJD and 8 cases of the genetic form human prion diseases. The age-and gender-specific average annual incidence were also significantly higher in the second decade (0.95/1,000,000) than in the first decade (0.63/1,000,000), with an incidence rate ratio of 1.51. The incidences increased with increasing age, reaching a peak at the age of 70-79 years. The 10-year survival curve for sCJD patients showed that the 1-, 5-, and 10-year cumulative survival rate were 52%, 5%, and 1%, respectively. PRNP polymorphisms in 170 patients showed that 98.8% were M129M and 97.6% E219E. Discussion: The significant increase in incidence after 2008 suggests the increase in the awareness of this rare disease among physicians. The longer disease duration in patients with sCJD in Taiwan than in other countries indicates that the comprehensive support of the health care system, as well as the end-of-life care culture in Taiwan, may prolong survival time in patients with such a progressive and fatal disease.

show abstract

“…Such a prolonged prodromal phase is untypical in patients with CJD, since their disease course usually progresses rapidly [2]. Some V180I gCJD patients survive for a long period of time [8,20], and Hayashi et al suggested that this was probably due to tube feeding and very mild brainstem involvement [20]. However, these long-term survival patients also show rapid progression from disease onset, unlike in the present case.…”

Section: Discussionmentioning

confidence: 46%

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

Nomura

Iwata

Naganuma

et al. 2020

Prion

Self Cite

View full text Add to dashboard Cite

Genetic Creutzfeldt-Jakob disease (gCJD) with a mutation in codon 180 of the prion protein gene (V180I gCJD) is the most common form of gCJD in Japan, but only a few cases have been reported in Europe and the United States. It is clinically characterized by occurring in the elderly and presenting as slowly progressive dementia, although it generally shows less cerebellar and pyramidal symptoms than sporadic CJD. Here, we report a patient with V180I gCJD who initially presented with slowly progressive spastic paralysis with neither cerebrospinal fluid (CSF) nor magnetic resonance imaging (MRI) abnormalities. His symptoms progressed gradually, and after 9 years, he displayed features more typical of CJD. Diffusion-weighted MRI revealed high-intensity signals in the cortical gyrus, and there was a marked increase of 14-3-3 protein and total tau protein in the CSF, but he was negative for the real-time quaking-induced conversion assay. Although the time course was more consistent with Gerstmann-Sträussler-Scheinker disease than CJD, genetic testing revealed V180I gCJD. This is the first report of a patient with V180I gCJD who initially presented with spastic paralysis, and also the first to reveal that it took 9 years from disease onset for cortical dysfunction to develop and for MRI and CSF abnormalities to be detectable. In conclusion, we should screen for V180I gCJD in elderly patients presenting with slowly progressive spastic paralysis.

show abstract

Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease

Cited by 11 publications

References 34 publications

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

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

<p>Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017</p>

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

Contact Info

Product

Resources

About