Article
The ocular motor features of adult-onset alexander disease: a case and review of the literature.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Jun 2011
Pfeffer Gerald, Abegg Mathias, Vertinsky A Talia, Ceccherini Isabella, Caroli Francesco, Barton Jason J S
Abstract excerpt
A 51-year-old Chinese man presented with gaze-evoked nystagmus, impaired smooth pursuit and vestibular ocular reflex cancellation, and saccadic dysmetria, along with a family history suggestive of late-onset autosomal dominant parkinsonism. MRI revealed abnormalities of the medulla and cervical spinal cord typical of adult-onset Alexander disease, and genetic testing showed homozygosity for the p.D295N...
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