MM2-type sporadic Creutzfeldt-Jakob disease: new diagnostic criteria for MM2-cortical type. Issue 11 (24th August 2020)

• Record Type: Journal Article
• Authors: Hamaguchi, Tsuyoshi; Sanjo, Nobuo; Ae, Ryusuke; Nakamura, Yosikazu; Sakai, Kenji; Takao, Masaki; Murayama, Shigeo; Iwasaki, Yasushi; Satoh, Katsuya; Murai, Hiroyuki; Harada, Masafumi; Tsukamoto, Tadashi; Mizusawa, Hidehiro; Yamada, Masahito
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 91:Issue 11(2020)
• Page Start: 1158
• Page End: 1165
• Publication Date: 2020-08-24
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2020-323231
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Objective: To clinically diagnose MM2-cortical (MM2C) and MM2-thalamic (MM2T)-type sporadic Creutzfeldt-Jakob disease (sCJD) at early stage with high sensitivity and specificity. Methods: We reviewed the results of Creutzfeldt-Jakob disease Surveillance Study in Japan between April 1999 and September 2019, which included 254 patients with pathologically confirmed prion diseases, including 9 with MM2C-type sCJD (MM2C-sCJD) and 10 with MM2T-type sCJD (MM2T-sCJD), and 607 with non-prion diseases. Results: According to the conventional criteria of sCJD, 4 of 9 patients with MM2C- and 7 of 10 patients with MM2T-sCJD could not be diagnosed with probable sCJD until their death. Compared with other types of sCJD, patients with MM2C-sCJD showed slower progression of the disease and cortical distribution of hyperintensity lesions on diffusion-weighted images of brain MRI. Patients with MM2T-sCJD also showed relatively slow progression and negative results for most of currently established investigations for diagnosis of sCJD. To clinically diagnose MM2C-sCJD, we propose the new criteria; diagnostic sensitivity and specificity to distinguish 'probable' MM2C-sCJD from other subtypes of sCJD, genetic or acquired prion diseases and non-prion disease controls were 77.8% and 98.5%, respectively. As for MM2T-sCJD, clinical and laboratory features are not characterised enough to develop its diagnostic criteria. Conclusions: MM2C-sCJD can be diagnosed at earlier stage using the new criteria with high sensitivity and specificity, although it is still difficult to diagnose MM2T-sCJD clinically.