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MERRF/MELAS overlap syndrome associated with 3243 tRNA Leu(UUR) mutation of mitochondrial DNA
Author(s) -
Onishi Yoji,
Yamazaki Motoyoshi,
Shibuya Hiroyuki,
Tanno Yoshinori,
Tsuji Shoji
Publication year - 1998
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.1998.tb00122.x
Subject(s) - myoclonus , mitochondrial myopathy , melas syndrome , myoclonic epilepsy , mitochondrial dna , lactic acidosis , encephalopathy , mitochondrial encephalomyopathy , biology , pathology , epilepsy , medicine , genetics , neuroscience , endocrinology , gene
We report a case of myoclonus epilepsy associated with ragged‐red fibers (MERRF)/mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episode (MELAS) overlap syndrome with hearing loss, external ophthalmoplegia, and myoclonus epilepsy in addition to stroke‐like episode and diabetes mellitus. Pathologically, there was degeneration in the dentate nuclei, substantia nigra, red nucleus, and subthalamic nucleus which has been reported as characteristic of MERRF, as well as necrotic lesions of various stages in the cerebral cortex, characteristic of MELAS. The gene study disclosed 3243 mutation in the tRNA Leu(UUR) gene of mitochondrial DNA. This case is the first neuropathological report of MERRF/MELAS overlap syndrome verified by gene analyses.