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- Title
Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report.
- Authors
Satomi Mezuki; Kenji Fukuda; Tomonaga Matsushita; Yoshihisa Fukushima; Ryu Matsuo; Yu-ichi Goto; Takehiro Yasukawa; Takeshi Uchiumi; Dongchon Kang; Takanari Kitazono; Tetsuro Ago; Mezuki, Satomi; Fukuda, Kenji; Matsushita, Tomonaga; Fukushima, Yoshihisa; Matsuo, Ryu; Goto, Yu-Ichi; Yasukawa, Takehiro; Uchiumi, Takeshi; Kang, Dongchon
- Abstract
<bold>Background: </bold>Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS.<bold>Case Presentation: </bold>A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes. He ultimately presented with cortical blindness, recurrent epilepsy and severe cognitive impairment approximately 6 months after the first episode. Genetic analysis of biopsied biceps brachii muscle, but not of peripheral white blood cells, revealed a T10158C mutation in the mtDNA-encoded gene of NADH dehydrogenase subunit 3 (ND3), which has previously been thought to be associated with severe or fatal mitochondrial disorders that develop during the neonatal period or in infancy.<bold>Conclusion: </bold>A T10158C mutation in the ND3 gene can cause atypical adult-onset stroke-like episodes in a sporadic manner.
- Subjects
MITOCHONDRIAL pathology; MELAS syndrome; GENETIC mutation; NADH dehydrogenase; LEUCOCYTES; DNA; PROTEINS; STROKE; MITOCHONDRIAL encephalomyopathies; DISEASE complications
- Publication
BMC Neurology, 2017, Vol 17, p1
- ISSN
1471-2377
- Publication type
journal article
- DOI
10.1186/s12883-017-1001-4