| Identifier |
20200308_nanos_posters_053 |
| Title |
GBA and ATP13A Mutation in Parkinson's Disease: Ocular Motor Abnormalities and Pathogenic Implications |
| Creator |
Rachel A. Calix, Giulietta Riboldi, John Martone, John-Ross Rizzo, Todd Hudson, William Dauer, Steven Frucht, Janet Rucker |
| Subject |
Ocular motility, Genetic disease |
| Description |
Mutations of GBA (Glucocerebrosidase) and ATP13A2 (P5-ATPase) genes are risk factors for Parkinson's disease (PD). Homozygous mutations of these genes cause rare, early onset diseases: Gaucher and Kufor-Rakeb, respectively. Given that supranuclear gaze palsy (SGP) is characteristic in Gaucher (horizontal SGP) and Kufor-Rakeb (vertical SGP), detailed eye movement analysis was performed in a patient with young-onset parkinsonism and heterozygous mutations of both genes. |
| Date |
2020-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights |
| 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 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6vm9n0r |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Rachel A. Calix |
| Contributor Secondary |
Giulietta Riboldi, John Martone, John-Ross Rizzo, Todd Hudson, William Dauer, Steven Frucht, Janet Rucker |
| Setname |
ehsl_novel_nam |
| ID |
1539283 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6vm9n0r |
