| Identifier |
20220213_nanos_posters_326 |
| Title |
Eye Movement Abnormalities in Parkinson's Disease (PD) Patients With and Without Heterozygous GBA Variants |
| Creator |
Ammar Ujjainwala; Cal Dewar; Laurel Donaldson; Caroline Rayburn; Emily Buenting; Jordan Boyle; Jorge Kattah |
| Affiliation |
(AU) (CD) (JB) University of Illinois College of Medicine at Peoria, Peoria, Illinois; (LD) (CR) (EB) Illinois Neurological Institute, Peoria |
| Subject |
Ocular Motility |
| Description |
Mono- and bi-allelic GBA variants represent the major genetic risk factor for Parkinson's Disease (PD), with reduced penetrance. Biomarkers for phenoconversion in GBA carriers are not available. Bi-allelic GBA variants cause Gaucher disease (GD). A subtype of GD (GD3) have characteristic slowing of horizontal saccades. Systematic analysis of eye movement in heterozygous GBA carriers has not been previously reported. We investigated eye movement abnormalities in patients with PD and heterozygous GBA variants compared to non-carrier PD. |
| Date |
2022-02 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2022: Poster Session I: Ocular Motility Disorders and Nystagmus |
| 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 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s652sp61 |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2065346 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s652sp61 |
