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Isolated mitochondrial stroke‐like episodes in an elderly patient with the MT ‐ ND 3 gene mutation
Author(s) -
Mukai Masako,
Sugaya Keizo,
Ozawa Tadashi,
Goto Yuichi,
Yagishita Akira,
Matsubara Shiro,
Bokuda Kota,
Miyakoshi Akinori,
Nakano Imaharu
Publication year - 2015
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.173
Subject(s) - medicine , lactic acidosis , stroke (engine) , mitochondrial myopathy , encephalopathy , melas syndrome , myopathy , pediatrics , pathology , mitochondrial dna , genetics , gene , biology , mechanical engineering , engineering
Stroke‐like episode represents a clinical hallmark of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes are usually suspected based on clinical symptoms, such as lactic acidosis, deafness, diabetes, short stature, myopathy, and cognitive decline, often with a maternal inheritance pattern of family history. We describe an elderly woman with recurrent stroke‐like episodes, who had only a faint concomitant signs, but no family history of mitochondrial disease. Sequence analysis of the mitochondrial genome extracted from biopsied muscle showed a heteroplasmic 10158T>C mutation in the mitochondrial complex I subunit gene, MT ‐ ND 3 . This is the first adult‐onset case harboring the m.10158T>C mutation, which is known to cause lethal infant‐onset Leigh syndrome. The unique manifestations of sporadic, elderly‐onset, and isolated stroke‐like episodes suggest that it is an important differential diagnosis for ischemic stroke and extend the clinical and mutational spectrum of mitochondrial stroke‐like episodes.