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Neurology 2001;56:405-407
© 2001 American Academy of Neurology
Brief Communications

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

M. Bataillard, MD;, E. Chatzoglou, PhD;, L. Rumbach, MD;, D. Sternberg, MD;, A. Tournade, MD;, P. Laforêt, MD;, C. Jardel, PhD;, T. Maisonobe, MD; and A. Lombès, MD, PhD

From the Hôpital A Boulloche (Drs. Bataillard, Rumbach, and Tournade), Montbéliard cedex; Unité INSERM U523, Institut de Myologie (Drs. Chatzoglou, Laforêt, and Lombès), Service de Biochimie B (Drs. Sternberg and Jardel), and the Service de Neuropathologie (Dr. Maisonobe), Hôpital de La Salpêtrière, Paris, France.

Address correspondence and reprint requests to Dr. A. Lombès, INSERM UR 523, Institut de Myologie, Hôpital de La Salpêtrière, 75651 Paris cedex 13, France; e-mail: a.lombes{at}myologie.chups.jussieu.fr

The authors studied a 47-year-old patient who presented with an association of deafness, acute cerebral stroke-like episode, leukoencephalopathy, and extensive basal ganglia calcifications. Late onset and neuroradiologic findings were atypical for MELAS syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes). A heteroplasmic G to A transition at nucleotide 4332 in the tRNA glutamine gene was identified in the patient’s muscle mitochondrial DNA. The pathogenicity of the mutation was shown in single muscle fibers by the correlation between high mutation load and cytochrome c oxidase defect.




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