G8363A mutation in trnalys in mtdna: report of the first italian family

C. Casali, G. M. Fabrizi, F. M. Santorelli, G. B. Colazza, G. Di Gennaro, E. Cardaioli, M. T. Dotti, A. Federico, M. Spadaro, C. Morocutti

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We describe a family in which severe gait ataxia, progressive external ophthalmoparesis, mild muscle weakness, multiple symmetrical lipomatosis and hearing loss were maternally transmitted over three generations. The onset varied from 9 to 35 years and the course was slowly progressive. Muscle biopsy showed signs of mitochondria! proliferation and biochemistry showed citochrome c oxidase deficiency. A G8363A transition in mtDNA tRNAL's gene was identified in all affected members. The mutation was more abundant in muscle than in peripheral lymphocytes with a good correlation with the clinical severity. This is the first Italian family harboring the G8363A mutation reported thus far. The same mutation was originally described in 2 unrelated American families with a syndrome consisting of severe hypertrophie cardiomyopathy, mild encephalomyopathy, and sensorineural hearing loss. It has also been reported in two Japanese families in association with Myoclonus epilepsy associated with ragged-red fibers syndrome. Our findings suggest that the clinical presentation may be more varied than previously thought.

Original languageEnglish
Pages (from-to)25
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number4
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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    Casali, C., Fabrizi, G. M., Santorelli, F. M., Colazza, G. B., Di Gennaro, G., Cardaioli, E., Dotti, M. T., Federico, A., Spadaro, M., & Morocutti, C. (1997). G8363A mutation in trnalys in mtdna: report of the first italian family. Italian Journal of Neurological Sciences, 18(4), 25.