Autonomic Symptoms in Carriers of the m.3243A > G Mitochondrial DNA Mutation

作者：Parsons Timothy; Weimer Louis; Engelstad Kristin; Linker Alex; Battista Vanessa; Wei Ying; Hirano Michio; DiMauro Salvatore; De Vivo Darryl C; Kaufmann Petra^*

来源：Archives of Neurology, 2010, 67(8): 976-979.

Background: The m.3243A>G mutation can cause multisystem medical problems and can affect the autonomic nervous system.
Objective: To study the frequency and spectrum of autonomic symptoms associated with the m.3243A>G mitochondrial DNA point mutation.
Design, Setting, and Patients: We studied a cohort of 88 matrilineal relatives from 40 families, including 35 fully symptomatic patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), 53 carrier relatives, and 16 controls using a questionnaire based on existing standard instruments for the evaluation of autonomic dysfunction. We compared the questionnaire with an expert evaluation. We compared data among the 3 groups using the Mantel-Haenszel chi(2) test to determine the statistical significance of differences between groups.
Results: Mutation carriers frequently had symptoms of autonomic dysfunction, specifically gastrointestinal and orthostatic intolerance.
Conclusions: Carriers of the m.3243A>G mutation have frequent autonomic symptoms. The m.3243A>G mutation should be considered as an etiological factor in patients with autonomic dysfunction and a medical or family history suggestive of mitochondrial disease. Because some autonomic symptoms are treatable, early detection and proactive management may mitigate the burden of morbidity.

• 出版日期2010-8