Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

@article{Tenisch2012MassiveAE,
  title={Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.},
  author={Estelle Valerie Tenisch and A S Lebre and David Gr{\'e}vent and Pascale de Lonlay and M. P. Vara-Del R{\'i}o and Monica Zilbovicius and Beno{\^i}t Funalot and Isabelle Desguerre and Francis Brunelle and Agn{\`e}s R{\"o}tig and Arnold Munnich and Nathalie Boddaert},
  journal={Neurology},
  year={2012},
  volume={79 4},
  pages={391}
}
A 23-year-old man had progressive nystagmus, cerebellar ataxia, pyramidal signs, and slurred speech since toddlerhood. MRI showed T2 hyperintensity of the cerebellum, the anterior brainstem, and the pyramidal tract, sparing the pontine tegmentum (figure, A). Lack of cerebellar NAA and choline on proton magnetic resonance spectroscopy, glucose hypometabolism on FDG-PET, and elevated cerebellar lactate suggested mitochondrial disease.1,2 Increased cerebellar blood flow suggested vessel… CONTINUE READING
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