| Identifier |
20150224_nanos_posters_247 |
| Title |
Delineation Of Natural History For Spinocerebellar Ataxia Type 7 (SCA-7) In Anticipation Of Rnai Therapy |
| Creator |
Steven F. Stasheff; Brett Jeffrey; Wadih Zein; Catherine Cukras; Kenneth H. Fischbeck; Mark Hallett; Albert La Spada; Brian P. Brooks |
| Affiliation |
(SFS) (BJ) (WZ) (CC) (BPB) National Eye Institute/Ophthalmic Genetics & Visual Function Branch, NIH, Bethesda, MD; (KHF) (MH) National Institute of Neurological Disorders & Stroke, NIH, Bethesda, MD; (AL) University of California-San Diego, La Jolla, CA |
| Subject |
Neuro-Ophth & Systyemic Disease; Genetic Disease; Retina; Optic Neuropathy; Diagnostic Tests |
| Description |
Among hereditary spinocerebellar ataxias, type 7 (SCA-7) is notable for a prominent retinal degeneration that adds blindness to the severe neurologic disabilities suffered by those affected with this disorder. Preclinical testing of RNAi therapy for SCA-7 has encouraged movement of this therapy to clinical trials in the near future. Critical to accurate evaluation of the safety and efficacy of such treatments are clear delineation of the disease natural history and of reliable quantitative outcome measures. We report the development of a single-center longitudinal natural history study emphasizing detailed evaluation of the retinal and optic nerve phenotype, and results from initial evaluation of two siblings with SCA-7. |
| Date |
2015-02-24 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2015 North American Neuro-Ophthalmology Society Annual Meeting |
| 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 |
| ARK |
ark:/87278/s6zh003q |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
184921 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6zh003q |
