MM2 type sporadic Creutzfeldt-Jakob disease:
ciinicoradiologic features and ciinicai diagnosis
Tsuyoshi Hamaguchi^ Tetsuyuki Kitamoto^'^^, Takeshi Sato^'^^, Hidehiro Mizusawa^'^^, Yosikazu Nakamura^'^^, Moeko Noguchi^ Yutaka Furu- kawa^, Chiho Ishida^, Ichiei Kuji^, Kazuko Mitani^^, Shigeo Mura- yama^^'^^, Tatsuo Kohriyama^^, Sadao Katayama^^, Mariko Yamashita^^, Tom Yamamoto^^, Fukashi Udaka^"^, Akio Kawakami^^, Yuetsu Ihara^^, Tetsuya Nishinaka^^, Shigetoshi Kuroda^^'^^, Naoki Suzuki^, Yusei Shiga^'^^, Hiroyuki Arai"^, Masahiro Mamyama"^ and Masahito Yamada^'^^
^Department of Neurology and Neurobiology of Aging, Kanazawa Univer- sity Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa 920-8641 Japan Departments of ^Neurological Science, ^Neurology, and
"^Geriatric and Complementary Medicine, Tohoku University Graduate School of Medicine, Sendai ^Kohnodai Hospital, National Center for Neurology and Psychiatry, Ichikawa ^Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental Uni- versity, Tokyo ^Department of Public Health, Jichi Medical School, Mi- namikawachi ^Department of Neurology, Noto General Hospital, Nanao
^Department of Nuclear Medicine, Kanazawa University Hospital, Kana- zawa ^ ^Department of Neurology, Tokyo Metropolitan Geriatric Medical Center, Tokyo ^ ^Department of Neuropathology, Tokyo Metropolitan In- stitute of Gerontology, Tokyo ^^Department of Neurology, Hiroshima University Hospital, Hiroshima ^^Department of Neurology, Saiseikai Nakatsu Hospital and Medical Center, Osaka ^"^Department of Neurol- ogy, Sumitomo Hosipital, Osaka ^ ^Department of Neurology, Kaetsu Hospital, Niitsu ^^Department of Neurology, Clinical Research Institute, National Hospital Organization Minami-Okayama Medical Center, Oka- yama ^^Department of Neuropsychiatry, Okayama University Graduate School of Medicine and Dentistry, Okayama ^^Creutzfeldt-Jakob Disease Surveillance Committee, Japan <e-mail> gom56@med.kanazawa-u.ac.jp
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Abstract
Objective
To identify diagnostic markers for MM2 type sporadic Creutzfeldt-Jakob disease (sCJD).
Methods
Investigations of neuropsychiatric manifestations, cerebrospinal fluid (CSF), electroencephalography (EEG), and neuroimaging studies were performed in eight patients with MM2 type sCJD confirmed by neuropa- thologic, genetic, and Western blot analyses.
Results
The eight patients were pathologically classified into the cortical (n=2), thalamic (n=5), and combined (cortico-thalamic) forms (n=l). The corti- cal form was characterized by late onset, slowly progressive dementia, cortical hyperintensity signals on diffusion-weighted imaging (DWI) of brain magnetic resonance imaging (MRI), and elevated levels of CSF 14-3-3 protein. The thalamic form showed various neurologic manifesta- tions including dementia, ataxia, and pyramidal and extrapyramidal signs with onset at various ages, and relatively long disease duration. Charac- teristic EEG and MRJ abnormalities were almost absent. However, all four patients examined with cerebral blood flow (CBF) study using sin- gle-photon emission computed tomography (CBF-SPECT) showed reduc- tion of CBF in the thalamus as well as the cerebral cortex. The combined form had features of both the cortical and thalamic forms, showing cortical hyperintensity signals on DWI of MRI and hypometabolism of the thala- mus on 18F-2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET).
Conclusion
MM2 type sCJD patients present with the characteristic clinicoradiologic
features; for the clinical diagnosis of MM2 sCJD, cortical hyperintensity
signals on DWI of MRI would be characteristic features for cortical forms.
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