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From the Departments of Internal Medicine (K.A.M.M.-V.), Neurology (K.A.M.M.-V., S.W., A.M.R., M.K., K.M.), Radiology (J.P.), and Otorhinolaryngology (S.U., M.S.), University of Oulu; Department of Clinical Neurophysiology (U.T.), Oulu University Hospital; Department of Internal Medicine (K.P.), University of Kuopio; and Department of Neurology (K.M.), University of Turku, Finland.
Address correspondence and reprint requests to Dr. Kirsi Majamaa-Voltti, Department of Internal Medicine, University of Oulu, P.O. Box 5000, FIN-90014 Oulu, Finland; e-mail: kirsi.majamaa-voltti{at}oulu.fi
Objective: To follow the clinical course of patients with the mitochondrial DNA mutation 3243A>G for 3 years.
Methods: Thirty-three adult patients with the 3243A>G mutation entered a 3-year follow-up study. They were clinically evaluated annually, audiometry was performed, and samples were drawn for the analysis of blood chemistry and mutation heteroplasmy in leukocytes. Holter recording was performed three times during the follow-up and echocardiography, neuropsychological assessment, and quantitative EEG and brain imaging conducted at entry and after 3 years.
Results: The incidence of new neurologic events was low during the 3-year follow-up. Sensorineural hearing impairment (SNHI) progressed, left ventricular wall thickness increased, mean 
frequency in the occipital and parietal regions decreased, and the severity of disease index (modified Rankin score) progressed significantly. The rate of SNHI progression correlated with mutation heteroplasmy in muscle. The increase in left ventricular wall thickness was seen almost exclusively in diabetic patients. Seven patients died during the follow-up, and they were generally more severely affected than those who survived.
Conclusions: Significant changes in the severity of disease, sensorineural hearing impairment, left ventricular hypertrophy, and quantitative EEG were seen in adult patients with 3243A>G during the 3-year follow-up.
Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 23 issue to find the title link for this article.
Supported by grants from the Ida Montin Foundation and from the Research Council for Health within the Academy of Finland.
Disclosure: The authors report no conflicts of interest.
Received July 6, 2005. Accepted in final form February 9, 2006.
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