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Petra Kaufmann, MD, MSc; Kristin Engelstad, BS; Ying Wei, PhD; Romana Kulikova, MD; Maryam Oskoui, MD; Vanessa Battista, MS, CPNP; Dorcas Y. Koenigsberger, MSN, CPNP; Juan M. Pascual, MD, PhD; Mary Sano, PhD; Michio Hirano, MD; Salvatore DiMauro, MD; Dikoma C. Shungu, PhD; Xiangling Mao, MS; Darryl C. De Vivo, MD

Arch Neurol. 2009;66(1):85-91.

Objective  To describe the spectrum of clinical symptoms, signs, and laboratory features associated with A3243G, a mitochondrial DNA point mutation that affects multiple organs with varying severity, making the diagnosis and treatment of these patients complex.

Design  Cohort study.

Setting  Columbia University Medical Center.

Participants  A cohort of 123 matrilineal relatives from 45 families, including 45 fully symptomatic patients with mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (syndrome), 78 carrier relatives, and 30 controls.

Main Outcome Measures  Data gathered from standardized medical history questionnaires, neurological and ophthalmological examination forms, and laboratory tests. We compared data between 3 groups.

Results  Mutation carriers' clinical and laboratory results frequently had many abnormalities. In addition to neurological symptoms, they often had cardiac, endocrine, gastrointestinal, and psychiatric symptoms.

Conclusions  The A3243G mutation carriers have multiple medical problems, suggesting that the A3243G mutation should be considered as an etiological factor in patients with multisystem clinical presentations or a family history compatible with matrilineal inheritance. Because some medical problems affecting A3243G mutation carriers are treatable, early detection and proactive management may mitigate the burden of morbidity.

Author Affiliations: Departments of Neurology (Drs Kaufmann, Kulikova, Hirano, DiMauro, and De Vivo and Mss Engelstad, Battista, and Koenigsberger), Pediatrics (Drs Kulikova and De Vivo), Biostatistics (Dr Wei), Columbia University Medical Center; Departments of Psychiatry, Mount Sinai School of Medicine (Dr Sano) and Radiology, Cornell University (Dr Shungu), New York, New York; The Montreal Neurological Institute, Montreal, Quebec, Canada (Dr Oskoui); and the Departments of Neurology, Physiology, and Pediatrics, University of Texas Southwestern, Dallas (Dr Pascual).

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