Pfeffer, Gerald; Abegg, Mathias; Vertinsky, A Talia; Ceccherini, Isabella; Caroli, Francesco; Barton, Jason J S (2011). The ocular motor features of adult-onset alexander disease: a case and review of the literature. Journal of neuro-ophthalmology, 31(2), pp. 155-159. Lippincott Williams & Wilkins 10.1097/WNO.0b013e31820ecb28
Full text not available from this repository.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 polymorphic allele in the gene encoding the glial fibrillary acidic protein. A review of the literature shows that ocular signs are frequent in adult-onset Alexander disease, most commonly gaze-evoked nystagmus, pendular nystagmus, and/or oculopalatal myoclonus, and less commonly ptosis, miosis, and saccadic dysmetria. These signs are consistent with the propensity of adult-onset Alexander disease to cause medullary abnormalities on neuroimaging.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology |
UniBE Contributor: |
Abegg, Mathias |
ISSN: |
1070-8022 |
Publisher: |
Lippincott Williams & Wilkins |
Language: |
English |
Submitter: |
Mathias Abegg |
Date Deposited: |
04 Oct 2013 14:12 |
Last Modified: |
05 Dec 2022 14:02 |
Publisher DOI: |
10.1097/WNO.0b013e31820ecb28 |
PubMed ID: |
21403579 |
Web of Science ID: |
000290784000014 |
URI: |
https://boris.unibe.ch/id/eprint/2639 (FactScience: 205484) |
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