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Clinicopathologic Report
February 1999

Neuro-ophthalmic, Radiographic, and Pathologic Manifestations of Adult-Onset Alexander Disease

Author Affiliations

From the Departments of Ophthalmology (Drs Martidis and Yee), Pathology (Dr Azzarelli), and Neurology (Dr Biller), Indiana University School of Medicine, Indianapolis.



Arch Ophthalmol. 1999;117(2):265-267. doi:10.1001/archopht.117.2.265

A 61-year-old woman had a 3-year history of imbalance. Eye movement studies revealed square-wave jerks, gaze paretic nystagmus, rebound nystagmus, impaired smooth pursuit, impaired optokinetic nystagmus, and abnormal fixation suppression of vestibular nystagmus. A brain magnetic resonance imaging study showed extensive areas of increased signal from the middle cerebellar peduncles and dentate nuclei, which enhanced with gadolinium. Histopathological analysis of a needle biopsy specimen of the left cerebellar peduncle revealed diffuse gliosis in the presence of symmetrically distributed areas of demyelination. There were associated Rosenthal fibers. Clinicopathologic correlation supported a diagnosis of Alexander disease. An adult patient with a history of progressive imbalance, ocular motility abnormalities consistent with cerebellar and/or brainstem dysfunction, and diffuse, symmetric hyperintense magnetic resonance imaging signals in brainstem and cerebellar white matter should suggest a diagnosis of adult-onset Alexander disease.