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.
|Number of pages||1|
|Journal||Italian Journal of Neurological Sciences|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Clinical Neurology