title: Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, Taiwan.
authors.forename: Chi-Hung
authors.initials: CH
authors.lastname: Liu
authors.forename: Chien-Hung
authors.initials: CH
authors.lastname: Chang
authors.forename: Hung-Chou
authors.initials: HC
authors.lastname: Kuo
authors.forename: Long-Sun
authors.initials: LS
authors.lastname: Ro
authors.forename: Chia-Wei
authors.initials: CW
authors.lastname: Liou
authors.forename: Yau-Huei
authors.initials: YH
authors.lastname: Wei
authors.forename: Chin-Chang
authors.initials: CC
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D012189:Retrospective Studies; D012640:Seizures / Q000175:diagnosis* / Q000235:genetics; D013226:Status Epilepticus / Q000175:diagnosis* / Q000235:genetics; D020521:Stroke / Q000175:diagnosis* / Q000235:genetics; D013624:Taiwan; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial