An autopsy-verified case of steroid-responsive encephalopathy with convulsion and a false-positive result from the real-time quaking-induced conversion assay

REFERENCES

• Stoeck K, Sanchez-Juan P, Gawinecka J, Green A, Ldogana A, Pocchiari M, et al. Cerebrospinal fluid biomarker supported diagnosis of Creutzfeldt-Jakob disease and rapid dementia: a longitudinal multicenter study over 10 years. Brain 2012; 135:3051-61; PMID:23012332; https://doi.org/10.1093/brain/aws238
   PubMed Web of Science ®Google Scholar
• Monti G, Tondelli M, Giovannini G, Bedin R, Nichelli PF, Trenti T, Meletti S, Chiari A. Cerebrospinal fluid tau proteins in status epilepticus. Epilepsy Behav 2015; 49:150-4; PMID:25958230; https://doi.org/10.1016/j.yebeh.2015.04.030
   PubMed Web of Science ®Google Scholar
• Jabeen SA, Cherukuri P, Mridula R, Harshavardhana KR, Gaddamanugu P, Sarva S, Meena AK, Borgohain R, Rani YJ. A prospective study of diffusion weighted magnetic resonance imaging abnormalities in patients with cluster of seizures and status epilepticus. Clin Neurol Neruosurg 2017; 155:70-4; https://doi.org/10.1016/j.clineuro.2017.02.013
   PubMed Web of Science ®Google Scholar
• Jin K, Shiga Y, Shibuya S, Chida K, Sato Y, Konno H, Doh-ura K, Kitamoto T, Itoyama Y. Clinical features of Creutzfeldt-Jakob disease with V180I mutation. Neurology 2004; 62:502-5; PMID:14872044; https://doi.org/10.1212/01.WNL.0000106954.54011.80
   PubMed Web of Science ®Google Scholar
• Hayashi Y, Yoshikura N, Takekoshi A, Yamada M, Asano T, Kimura A, Satoh K, Kitamoto T, Inuzuka T. Preserved regional cerebral blood flow in the occipital cortices, brainstem, and cerebellum of patients with V180I-129M genetic Creutzfeldt-Jakob disease in serial SPECT studies. J Neurol Sci 2016; 370:145-51; PMID:27772745; https://doi.org/10.1016/j.jns.2016.09.043
   PubMed Web of Science ®Google Scholar
• Atarashi R, Satoh K, Sano K, Fuse T, Yamaguchi N, Ishibashi D, Matsubara T, Nakagaki T, Yamanaka H, Shirabe S, et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med 2011; 17:175-8; PMID:21278748; https://doi.org/10.1038/nm.2294
   PubMed Web of Science ®Google Scholar
• Cramm M, Schmitz M, Karch A, Mitrova E, Kuhn F, Schroeder B, Raeber A, Varges D, Kim YS, Satoh K, et al. Stability and reproducibility underscore utility of RT-QuIC for diagnosis of Creutzfeldt-Jakob disease. Mol Neurobiol 2016; 53:1896-904; PMID:25823511; https://doi.org/10.1007/s12035-015-9133-2
   PubMed Web of Science ®Google Scholar
• Graus F, Titulaer MJ, Balu R, Benseler S, Bien CG, Cellucci T, Cortese I, Dale RC, Gelfand JM, Geschiwind M, et al. A clinical approach to diagnosis of autoimmune encephalitis. Lancet Neurol 2016; 15:391-404; PMID:26906964; https://doi.org/10.1016/S1474-4422(15)00401-9
   PubMed Web of Science ®Google Scholar
• Hayashi Y, Inuzuka T. A multidisciplinary medical network approach is crucial for increasing the number of autopsies for prion disease [Reply to: How can we increase the numbers of autopsies for prion disease? A model system in Japan]. J Neurol Sci 2017; 377:95-6; PMID:28477717; https://doi.org/10.1016/j.jns.2017.04.004
   PubMed Web of Science ®Google Scholar
• Kitamoto T, Shin RW, Doh-ura K, Tomokane N, Miyazono M, Muramoto T, Tateishi J. Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease. Am J Pathol 1992; 140:1285-94; PMID:1351366
   PubMed Web of Science ®Google Scholar
• Iwasaki Y, Hashizume Y, Yoshida M, Kitamoto T, Sobue G. Neuropathological characteristics of brainstem lesions in sporadic Creutzfeldt-Jakob disease. Acta Neuropathol 2005; 109:557-66; PMID:15933870; https://doi.org/10.1007/s00401-005-0981-0
   PubMed Web of Science ®Google Scholar
• Iwasaki Y, Mimuro M, Yoshida M, Hashizume Y, Kitamoto T, Sobue G. Clinicopathologic characteristics of five autopsied cases of dura mater-associated Creutzfeldt-Jakob disease. Neuropathology 2008; 28:51-61; PMID:18181835; https://doi.org/10.1111/j.1440-1789.2007.00847.x
   PubMed Web of Science ®Google Scholar
• Hayashi Y, Iwasaki Y, Takekoshi A, Yoshikura N, Asano T, Mimuro M, Kimura A, Satoh K, Kitamoto T, Yoshida M, et al. An autopsy-verified case of FTLD-TDP type A with upper motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease. Prion 2016; 10:492-501; PMID:27929803; https://doi.org/10.1080/19336896.2016.1243192
   PubMed Web of Science ®Google Scholar
• Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, Chen W, Blevins J, Wang H, Gambetti P, et al. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Ann Neurol 2017; 81:79-92; PMID:27893164; https://doi.org/10.1002/ana.24833
   PubMed Web of Science ®Google Scholar
• Hayashi Y, Inuzuka T. Reply to: Amyotrophic lateral sclerosis with frontotemporal dementia (ALS-FTD) syndrome as a phenotype of Creutzfeldt-Jakob disease (CJD)? A case report. J Neurol Sci 2017; 375:489; PMID:28258726; https://doi.org/10.1016/j.jns.2017.02.055
   PubMed Web of Science ®Google Scholar