Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine

A. Uncini, R. Lodi, A. Di Muzio, Gabriella Silvestri, Serenella Servidei, A. Lugaresi, S. Iotti, P. Zaniol, B. Barbiroli

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59 Citazioni (Scopus)


Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder of unknown pathogenesis characterized by migraine and transitory hemiplegic attacks. We describe a kindred fulfilling the diagnostic criteria for FHM in which: (1) brain phosphorus magnetic resonance spectroscopy (31P-MRS) showed a reduced phosphocreatine content accompanied by high [ADP], high percentage of V/Vmax of ATP biosynthesis and decreased phosphorylation potential; (2) muscle 31P-MRS showed a reduced rate 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 oxidase negative; (5) genetic analysis of muscle mitochondrial DNA did not show any of the two point mutations in the tRNALeu(UUR) associated with the MELAS syndrome (Mitochondrial myopathy, Encephalopathy with Lactic Acidosis and Stroke-like episodes). The defective energy metabolism of brain and muscle found in this pedigree suggests a multisystemic disorder of mitochondrial function in this FHM pedigree. © 1995.
Lingua originaleEnglish
pagine (da-a)214-222
Numero di pagine9
RivistaJournal of the Neurological Sciences
Stato di pubblicazionePubblicato - 1995


  • 31
  • Brain energy metabolism
  • Familial hemiplegic migraine (FHM)
  • Mitochondrial function
  • Muscle bioenergetics
  • P-NMR spectroscopy


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