Journal article

MYOCLONUS EPILEPSY AND RAGGED-RED FIBERS (MERRF) .1. A CLINICAL, PATHOLOGICAL, BIOCHEMICAL, MAGNETIC-RESONANCE SPECTROGRAPHIC AND POSITRON EMISSION TOMOGRAPHIC STUDY

SF BERKOVIC, S CARPENTER, A EVANS, G KARPATI, EA SHOUBRIDGE, F ANDERMANN, E MEYER, JL TYLER, M DIKSIC, D ARNOLD, LS WOLFE, E ANDERMANN, AM HAKIM

BRAIN | OXFORD UNIV PRESS UNITED KINGDOM | Published : 1989

Abstract

Thirteen patients, including 6 from one family, with the syndrome of myoclonus epilepsy and ragged-red fibres (MERRF) were studied. There was considerable heterogeneity in the age of onset, severity and associated clinical features. Postmortem studies in 3 patients from the one family showed a particular system degeneration. In addition, the youngest and most severely affected family member showed the pathological changes of Leigh's syndrome. Cortical dysfunction is a prominent clinical feature in MERRF, but postmortem examination failed to reveal cortical abnormalities. Positron emission tomographic studies, however, showed decreased cortical metabolic rates for glucose and oxygen utilizati..

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