Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease

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Identifier 20230312_nanos_posters_054
Title Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease
Creator Andrew Dugue; Scott Grossman; Nicolas Abreu; Cinthi Pillai
Affiliation (AD) (NA) (CP) NYU Langone Health; (SG) NYU Grossman School of Medicine
Subject Genetic Disease; Optic Neuropathy
Description Adult polyglucosan body disease (APBD) is characterized by the development of progressive gait dysfunction, autonomic dysfunction, sensory loss, cognitive difficulties, and neurogenic bladder after 40 years of age (Akman 1). It is usually attributed to GBE1 mutations (1). While this disorder classically presents with progressive motor, autonomic, sensory, and cognitive deficits, to our knowledge, neuro-ophthalmic manifestations have not been previously described.
Date 2023-03-14
Language eng
Format application/pdf
Type Text
Source 2023 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2023: Poster Session I: Neuro-Ophthalmic Disorders of Neurologic and Systemic Diseases
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s635mgkq
Setname ehsl_novel_nam
ID 2335260
Reference URL https://collections.lib.utah.edu/ark:/87278/s635mgkq
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