• Chi-Hung Liu, Chien-Hung Chang, Hung-Chou Kuo, Long-Sun Ro, Chia-Wei Liou, Yau-Huei Wei, and Chin-Chang Huang.
• Department of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, Taiwan.
• J Formos Med Assoc. 2012 Sep 1; 111 (9): 489494489-94.

Background/PurposeThe clinical analyses and prognoses of mitochondrial diseases with A3243G mutation are rarely documented in Taiwan. Our study investigated the clinical phenotypes and the outcomes of patients with mitochondrial disease and the A3243G mutation of mtDNA in a Taiwanese population, and compared these with previous reports.MethodsWe retrospectively studied 22 consecutive patients with mitochondrial disease and the A3243G mutation of mtDNA in Chang Gung Memorial Hospital between 1988 and 2009. All patients underwent a detailed demographic registration, neurological examinations, a muscle biopsy, and mitochondrial DNA analysis. Modified Rankin scale, the presence of recurrent strokes or seizures, critical medical complications, and death were monitored during the follow-up period.ResultsOf the 22 patients, seizures and stroke-like episodes were found in 12 (55%). Visceral involvement, including cardiomyopathy, nephropathy, and pulmonary hypertension, were noted in five patients (23%). Patients with seizures had a high frequency of status epilepticus (92%) and a younger age of onset (21.3±7.2 years). Both the Kaplan-Meier survival analysis and the Cox-regression model showed a marked deterioration in patients with seizures after 7 years of follow-up.ConclusionOur study found that seizures and status epilepticus are the most important predictive values for a poor outcome in patients with the mtA3243G mutation of mtDNA. Age of onset and visceral organ involvement had no prominent influence on the prognosis. Some medical complications could be well controlled or even reversed after management.Copyright © 2012. Published by Elsevier B.V.

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