The ocular motor features of adult-onset alexander disease: a case and review of the literature

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

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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:

06 Feb 2017 13:27

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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