Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.

@article{Salsano2011MitochondrialDA,
  title={Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.},
  author={Ettore Salsano and Anna Rita Giovagnoli and Lucia Morandi and Carmelo Maccagnano and Eleonora Lamantea and Chiara Marchesi and Massimo Zeviani and Davide Pareyson},
  journal={Journal of the neurological sciences},
  year={2011},
  volume={300 1-2},
  pages={165-8}
}
We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-TL1 gene, that encodes the mitochondrial transfer RNA for leucine 1 (UUA/G). MT-TL1 mutations usually cause the MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. Our patient, however, suffered from a non-syndromic mitochondrial disorder (MID), clinically characterized by progressive cognitive and behavioral decline, and hearing loss; brain MRI disclosed… CONTINUE READING

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