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: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
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 |