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Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome
  1. A M Remes1,2,3,
  2. M Kärppä1,2,3,
  3. H Rusanen1,2,3,
  4. K Majamaa1,2,3,
  5. I E Hassinen2,
  6. J S Moilanen2,3,
  7. S Uimonen4,
  8. M Sorri4,
  9. P I Salmela5,
  10. S-L Karvonen6,
  11. S-L Karvonen7
  1. 1Department of Neurology, University of Oulu, Oulu, Finland
  2. 2Department of Medical Biochemistry and Molecular Biology, University of Oulu
  3. 3Biocentre, University of Oulu
  4. 4Department of Otorhinolaryngology, University of Oulu
  5. 5Department of Internal Medicine, University of Oulu
  6. 6Department of Dermatology, University of Oulu
  7. 7Department of Dermatology, University of Helsinki, Helsinki, Finland
  1. Correspondence to:
 Professor K Majamaa, Department of Neurology, University of Oulu, PO Box 5000, FIN-90014 Oulu, Finland;
 kari.majamaa{at}oulu.fi

https://doi.org/10.1136/jnnp.74.8.1158

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    The myoclonus epilepsy and ragged red fibres (MERRF) syndrome is a maternally inherited progressive mitochondrial encephalomyopathy caused by a 8344A>G mutation in the MTTK gene that encodes mitochondrial tRNA for lysine. Its common clinical features include myoclonic and tonic-clonic seizures, ataxia, and myopathy, but other features have also been reported, including lipoma, diabetes mellitus, optic atrophy, peripheral neuropathy, hearing loss, and dementia.1

    The population frequencies of pathogenic mutations in mitochondrial DNA (mtDNA) are not well known, but the Finnish healthcare organisation provides good opportunities to carry out studies on molecular epidemiology. We have previously determined the frequency of 3243A>G, the most common cause of the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), to be 16/100 000 in the adult population of Northern Ostrobothnia.2 We report here on the identification of patient groups with common clinical features of the MERRF syndrome, in a comparable population and the resulting determination of the prevalence of the 8433A>G mtDNA mutation.

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