Neurology · 2012 · 28 citations · 2 references
Life SciencesNeurologyNeuroscienceNeurogeneticsNeuropathologyNeuroradiologyCerebellar AnatomyMendelian Neurological DisordersMitochondrial DiseaseMitochondrial DisordersMitochondrial Neurological DisordersNeurogenetic DisordersCerebellar DiseaseCerebellar DysfunctionHereditary AtaxiasMitochondrial AtaxiaMitochondrial NeuropathologyPontine TegmentumPyramidal SignsPyramidal Tract
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][1], A). Lack of cerebellar NAA and choline
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