1. MM2-type sporadic Creutzfeldt-Jakob disease: new diagnostic criteria for MM2-cortical type
- Author
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Masaki Takao, Masafumi Harada, Nobuo Sanjo, Yosikazu Nakamura, Hidehiro Mizusawa, Tsuyoshi Hamaguchi, Yasushi Iwasaki, Masahito Yamada, Tadashi Tsukamoto, Ryusuke Ae, Shigeo Murayama, Katsuya Satoh, Kenji Sakai, and Hiroyuki Murai
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,PrPSc Proteins ,Disease ,Sensitivity and Specificity ,Creutzfeldt-Jakob Syndrome ,Prion Proteins ,03 medical and health sciences ,0302 clinical medicine ,Thalamus ,Fluorodeoxyglucose F18 ,Brain mri ,medicine ,Humans ,Cysteine ,Stage (cooking) ,Aged ,030304 developmental biology ,Aged, 80 and over ,Cerebral Cortex ,Tomography, Emission-Computed, Single-Photon ,0303 health sciences ,Disease surveillance ,business.industry ,Organotechnetium Compounds ,Sporadic Creutzfeldt-Jakob disease ,Middle Aged ,Iofetamine ,Hyperintensity ,Psychiatry and Mental health ,Diffusion Magnetic Resonance Imaging ,Case-Control Studies ,Cerebrovascular Circulation ,Disease Progression ,Female ,Surgery ,Neurology (clinical) ,Radiopharmaceuticals ,business ,Relatively slow progression ,030217 neurology & neurosurgery - Abstract
ObjectiveTo clinically diagnose MM2-cortical (MM2C) and MM2-thalamic (MM2T)-type sporadic Creutzfeldt-Jakob disease (sCJD) at early stage with high sensitivity and specificity.MethodsWe 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.ResultsAccording 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.ConclusionsMM2C-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.
- Published
- 2020
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