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From the Department of Neurology (Drs. Jin, Shiga, and Itoyama), Tohoku University School of Medicine, Sendai, Department of Neurology (Dr. Shibuya), Miyagi National Hospital, Yamamoto, Department of Neurology (Dr. Chida), Kohnan Hospital, Sendai, Department of Neurology (Dr. Sato), Research Institute for Brain and Blood Vessels-Akita, Akita, Department of Neurology (Dr. Konno), Nishitaga National Hospital, Sendai, Department of Neuropathology (Dr. Koh-ura), Neurological Institute, Kyushu University Faculty of Medicine, Fukuoka, and Department of Neurological Science (Dr. Kitamoto), Tohoku University School of Medicine, Sendai, Japan.
Address correspondence and reprint requests to Dr. Y. Shiga, Department of Neurology, Tohoku University School of Medicine, 1-1, Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; e-mail: yshiga{at}em.neurol.med.tohoku.ac.jp
The authors describe the clinical features of Creutzfeldt-Jakob disease (CJD) with the causative point mutation at codon 180. The symptoms never started with visual or cerebellar involvement. The patients showed slower progression of the disease compared with sporadic CJD. They never showed periodic sharp and wave complexes in EEG. MRI demonstrated remarkable high-intensity areas with swelling in the cerebral cortex except for the medial occipital and cerebellar cortices. These characteristic MRI findings are an important clue for an accurate premortem diagnosis.
Received April 16, 2003. Accepted in final form October 6, 2003.
Presented in part at the 127th annual meeting of the American Neurological Association, New York, NY, October 14, 2002.
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