Diabetes With the 3243 Mitochondrial tRNALeu(UUR) Mutation: Characteristic neuroimaging findings
- Yoshihiko Suzuki, MD,
- Takashi Hata, MD,
- Hitoshi Miyaoka, MD,
- Yoshito Atsumi, MD,
- Hiroko Kadowaki, MD,
- Matsuo Taniyama, MD,
- Takasi Kadowaki, MD,
- Masato Odawara, MD,
- Yasushi Tanaka, MD,
- Takayuki Asahina, MD and
- Kempei Matsuoka, MD
- Saiseikai Central Hospital, Tokyo, Japan
- Department of Internal Medicine, Kitazato University Sagamihara, Kanagawa
- Department of Psychiatry, Showa University Tokyo
- Third Department of Internal Medicine, Showa University Tokyo
- Institute for Diabetes Care and Research, Asahi Life Foundation Tokyo
- Third Department of Internal Medicine, Tokyo University Tokyo
- Institute of Clinical Medicine, University of Tsukuba Tsukuba-City
- Department of Medicine, Metabolism and Endocrinology, Juntendo University Tokyo, Japan
- Address correspondence and reprint requests to Yoshihiko Suzuki, MD, Saiseikai Central Hospital, 1-4-17, Mita, Minato-ku, Tokyo 108, Japan
Abstract
OBJECTIVE To investigate the basis of central nervous system dysfunction in diabetes associated with the 3243 mitochondrial tRNA mutation, we studied neuroimaging findings in patients with this disease.
RESEARCH DESIGN AND METHODS We screened 205 diabetic patients. Those patients who had the 3243 mutation in leukocytes or muscle were enrolled. All the subjects underwent computed tomography (CT), magnetic resonance imaging (MRI), magnetic resonance angiography (MRA), and N-isopropyl-p-[123I]iodoamphetamine ([123I]IMP) single-photon emission computed tomography (SPECT) of the brain.
RESULTS None of the nine subjects with the 3243 mutation had the typical clinical picture of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and none had neurological focal signs. CT or MRI revealed diffuse brain atrophy in three patients (33%) and cerebellar atrophy in one (11%). Abnormal high intensity areas were observed on MRI in five patients (56%). The overall prevalence of brain abnormalities was 56% (5 of 9) on CT and 78% (7 of 9) on MRI scans. MRA revealed no stenotic lesions. SPECT showed reduced accumulation of [123I]IMP in the right or left parieto-occipital region in eight patients (89%).
CONCLUSIONS Reduced accumulation of [123I]IMP in the parieto-occipital cortex was found in a high proportion of our subjects on SPECT. This imaging finding might be characteristic of diabetes associated with the 3243 mitochondrial tRNA mutation and may be a sign of latent central nervous system dysfunction.
- Received June 21, 1995.
- Revision received January 11, 1996.
- Accepted January 11, 1996.
- Copyright © 1996 by the American Diabetes Association
