| Identifier |
20130212_nanos_posters_001 |
| Title |
Redefining Wolfram Syndrome in the Molecular Era |
| Creator |
Yu-Wai-Man, Patrick; Guthrie, Grant; Sitraz, Kamil S; Pyle, Angela; Horvath, Rita; Griffiths, Philip G; Chinnery, Patrick F |
| Subject |
Wolfram Syndrome; DIDMOAD; Autosomal Dominant Opic Atrophy; Mitochondrial Disorders |
| Description |
Wolfram syndrome is a progressive neurodegenerative disorder that was historically defined by a cluster of common clinical manifestations: diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). In the premolecular era, Wolfram syndrome was thought to be relatively rare with an estimated prevalence of 1 in 770,000 in the United Kingdom. Although genetically heterogeneous, the majority of affected patients harbor pathogenic WFS1 mutations inherited as an autosomal-recessive trait. As part of our ongoing epidemiological study of inherited optic neuropathies in the North of England, it became apparent that Wolfram syndrome is a more complex disease than originally considered with direct implications for patient screening and genetic counselling. |
| Date |
2013-02-12 |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
application/pdf |
| Type |
Text |
| Source |
2013 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2013: Poster Presentations |
| 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 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s61k2hgx |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
183326 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s61k2hgx |
