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Neurology 2003;60:1357-1359
© 2003 American Academy of Neurology
Brief Communications

Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA

M. Deschauer, MD, C. Bamberg, MD, D. Claus, MD, S. Zierz, MD, D.M. Turnbull, FRCP and R.W. Taylor, PhD

From the Department of Neurology (Drs. Deschauer, Turnbull, and Taylor), The Medical School, University of Newcastle upon Tyne, UK; Department of Neurology (Drs. Deschauer and Zierz), Martin-Luther-Universitaet Halle-Wittenberg, Halle/Saale, Germany; and Department of Neurology (Drs. Bamberg and Claus), Klinikum Darmstadt, Teaching Hospital University of Frankfurt, Germany.

Address correspondence and reprint requests to Professor D.M. Turnbull, Department of Neurology, The Medical School, Framlington Place, University of Newcastle upon Tyne, NE2 4HH, UK; e-mail: d.m.turnbull{at}ncl.ac.uk

A 67-year-old man presented with cognitive deficits, status epilepticus, left hemiparesis, and severe lactic acidosis. Respiratory chain enzyme analysis of skeletal muscle revealed a defect in complex I activity, associated with a heteroplasmic C11777A mutation in the mitochondrial ND4 gene. This case is remarkable not only because of the late onset of symptoms, but because this mutation affects the identical ND4 codon as the G11778A mutation that causes Leber hereditary optic neuropathy.






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