Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.

@article{Lodi2001CardiacEA,
  title={Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.},
  author={Raffaele Lodi and Bheeshma Rajagopalan and Andrew M. Blamire and Jacqueline Cooper and Crispin H Davies and Jane L. Bradley and Peter Styles and Anthony H V Schapira},
  journal={Cardiovascular research},
  year={2001},
  volume={52 1},
  pages={111-9}
}
OBJECTIVE Friedreich ataxia (FRDA), the commonest form of inherited ataxia, is often associated with cardiac hypertrophy and cardiac dysfunction is the most frequent cause of death. In 97%, FRDA is caused by a homoplasmic GAA triplet expansion in the FRDA gene on chromosome 9q13 that results in deficiency of frataxin, a mitochondrial protein of unknown function. There is evidence that frataxin deficiency leads to a severe defect of mitochondrial respiration associated with abnormal… CONTINUE READING