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Division of Ultrastructural Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan (Drs. Goto, Matsuoka, Koga, and Nonaka)
Department of Human Genetics, National Institute of Genetics, Mishima, Japan (Dr. Horai)
Department of Neurology, National Children's Hospital, Tokyo, Japan (Dr. Nihei)
Department of Pediatrics, Nagoya City University, Nagoya, Japan (Dr. Kobayashi).
We studied 40 MELAS patients (21 male and 19 female) to characterize the clinical features and biochemical and muscle biopsy findings related to the mtDNA mutation at the nucleotide position of 3,243, the most common genetic defect in MELAS. The most frequent symptom was episodic sudden headache with vomiting and convulsions, which commonly affected patients aged 5 to 15 years (80%). Biochemical defects in the muscle were variable; 13 patients had complex I, seven complex IV, and four complexes I+IV deficiencies. In four muscle biopsies without ragged-red fibers or any enzyme defect, we based the diagnosis on the identification of strongly SDH-reactive blood vessels, which occurred in 87.5% of the biopsies. The mtDNA mutation was present in 32 of 40 patients (80%). We conclude that there are no clinical and pathologic differences between the patients with and without this mtDNA mutation.
Address correspondence and reprint requests to Dr. Yu-ichi Goto, Division of Ultrastructural Research, National Institute of Neuroscience, NCNP, 4–1–1 Ogawahigashi, Kodaira, Tokyo 187, Japan.
Received April 16, 1991. Accepted for publication in final form August 2, 1991.
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