ABNORMAL BRAIN AND MUSCLE ENERGY-METABOLISM SHOWN BY P-31-MRS IN FAMILIAL HEMIPLEGIC MIGRAINE

Familial hemiplegic migraine (FHM) is a rare autosomal dominant disord er of unknown pathogenesis characterized by migraine and transitory he miplegic attacks. We describe a kindred fulfilling the diagnostic crit eria for FHM in which: (1) brain phosphorus magnetic resonance spectro scopy (P-31-MRS) showed a reduced phosphocreatine content accompanied by high [ADP], high percentage of V/Vmax of ATP biosynthesis and decre ased phosphorylation potential; (2) muscle P-31-MRS showed a reduced r ate of phosphocreatine recovery after exercise; (3) blood lactate was increased after effort; (4) muscle biopsy showed, in one patient, rare ragged red fibers succinate-dehydrogenase positive and cytochrome c o xidase negative; (5) genetic analysis of muscle mitochondrial DNA did not show any of the two point mutations in the tRNA(Leu(UUR)) associat ed with the MELAS syndrome (Mitochondrial myopathy, Encephalopathy wit h Lactic Acidosis and Stroke-like episodes). The defective energy meta bolism of brain and muscle found in this pedigree suggests a multisyst emic disorder of mitochondrial function in this FHM pedigree.