The cerebellar component of Friedreich’s ataxia

@article{Koeppen2011TheCC,
  title={The cerebellar component of Friedreich’s ataxia},
  author={Arnulf H. Koeppen and Ashley N. Davis and Jennifer A. Morral},
  journal={Acta Neuropathologica},
  year={2011},
  volume={122},
  pages={323-330}
}
Lack of frataxin in Friedreich’s ataxia (FRDA) causes a complex neurological and pathological phenotype. Progressive atrophy of the dentate nucleus (DN) is a major intrinsic central nervous system lesion. Antibodies to neuron-specific enolase (NSE), calbindin, glutamic acid decarboxylase (GAD), and vesicular glutamate transporters 1 and 2 (VGluT1, VGluT2) allowed insight into the disturbed synaptic circuitry of the DN. The available case material included autopsy specimens of 24 patients with… CONTINUE READING