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 CASE REPORT
Year : 2012  |  Volume : 60  |  Issue : 1  |  Page : 86--89

A study of familial MELAS: Evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression


1 Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China
2 Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China; Department of Psychiatry, Harvard Medical School, Division of Alcohol and Drug Abuse, and Mailman Research Center, McLean Hospital, Belmont, MA, U.S.A.
3 Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China
4 Department of Neurology, Renmin Hospital of Wuhan University, China

Correspondence Address:
Tao Wang
Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Road, Wuhan 430022, Hubei, China

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Source of Support: Grants 30870866, 31171211 and 81071021 from the National Natural Science Foundation of China (to TW), grant 81100958 from the National Natural Science Foundation of China (to ZTZ) and grant 20066002100 from the Wuhan Science and Technology Bureau, China (to TW), Conflict of Interest: None


DOI: 10.4103/0028-3886.93609

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The clinical manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS syndrome) are nonspecific and can easily be misdiagnosed. Magnetic resonance spectroscopy (MRS)-based detection of lactate in the brain has been found to be of diagnostic help in MELAS syndrome, however, the issue of whether MRS features vary by stage remains unresolved. We assessed the causative mutation and radiological features of a family of MELAS. Four of the family members harbored the A3243G mutation, probably of maternal inheritance. However, the clinical phenotypic expression was different in these patients. MRS showed a lactate peak, decreased N-acetylaspartate, choline, and creatine, which became more pronounced with progression of the disease, demonstrating that brain-MRS-based detection of lactate may be a suitable way to monitor the progression and treatment of MELAS.






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