Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease

T. Hamaguchi, T. Kitamoto, T. Sato, H. Mizusawa, Y. Nakamura, M. Noguchi, Y. Furukawa, C. Ishida, I. Kuji, K. Mitani, S. Murayama, T. Kohriyama, S. Katayama, M. Yamashita, T. Yamamoto, F. Udaka, A. Kawakami, Y. Ihara, T. Nishinaka, S. KurodaN. Suzuki, Y. Shiga, H. Arai, M. Maruyama, M. Yamada

Research output: Contribution to journalArticlepeer-review

91 Citations (Scopus)

Abstract

Background: No method for the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease (sCJD) has been established except for pathologic examination. Objective: To identify a reliable marker for the clinical diagnosis of MM2-type sCJD. Methods: CSF, EEG, and neuroimaging studies were performed in eight patients with MM2-type sCJD confirmed by neuropathologic, genetic, and western blot analyses. Results: The eight cases were pathologically classified into the cortical (n = 2), thalamic (n = 5), and combined (corticothalamic) (n = 1) forms. The cortical form was characterized by late-onset, slowly progressive dementia, cortical hyperintensity signals on diffusion-weighted imaging (DWI) of brain, and elevated levels of CSF 14-3-3 protein. The thalamic form showed various neurologic manifestations including dementia, ataxia, and pyramidal and extrapyramidal signs with onset at various ages and relatively long disease duration. Characteristic EEG and MRI abnormalities were almost absent. However, all four patients examined with cerebral blood flow (CBF) study using SPECT showed reduction of the CBF in the thalamus as well as the cerebral cortex. The combined form had features of both the cortical and the thalamic forms, showing cortical hyperintensity signals on DWI and hypometabolism of the thalamus on [18F]2-fluoro-2-deoxy-D-glucose PET. Conclusion: For the clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease, cortical hyperintensity signals on diffusion-weighted MRI are useful for the cortical form and thalamic hypoperfusion or hypometabolism on cerebral blood flow SPECT or [18F]2-fluoro-2-deoxy-D-glucose PET for the thalamic form.

Original languageEnglish
Pages (from-to)643-648
Number of pages6
JournalNeurology
Volume64
Issue number4
DOIs
Publication statusPublished - 2005 Feb 22

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease'. Together they form a unique fingerprint.

Cite this