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Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA.
MedLine Citation:
PMID:  23021505     Owner:  NLM     Status:  In-Data-Review    
BACKGROUND/PURPOSE: The 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.
METHODS: We 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.
RESULTS: Of 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.
CONCLUSION: Our 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.
Chi-Hung Liu; Chien-Hung Chang; Hung-Chou Kuo; Long-Sun Ro; Chia-Wei Liou; Yau-Huei Wei; Chin-Chang Huang
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Publication Detail:
Type:  Journal Article     Date:  2012-04-18
Journal Detail:
Title:  Journal of the Formosan Medical Association = Taiwan yi zhi     Volume:  111     ISSN:  0929-6646     ISO Abbreviation:  J. Formos. Med. Assoc.     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-10-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214933     Medline TA:  J Formos Med Assoc     Country:  China (Republic : 1949- )    
Other Details:
Languages:  eng     Pagination:  489-94     Citation Subset:  IM    
Copyright Information:
Copyright © 2012. Published by Elsevier B.V.
Department of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, Taiwan.
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