| Identifier |
20140304_nanos_posters_026 |
| Title |
A 4-Generation Family Case Series of Spinocerebellar Ataxia Type 7 |
| Creator |
Erin M. Draper; Sarah D. Appel; Kelly A. Malloy |
| Affiliation |
Salus University, Elkins Park, PA |
| Subject |
Spinocerebellar Ataxia Type 7; Autosomal Dominant Disorder; ATXN7 Gene |
| Description |
Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominant disorder associated with progressive vision loss. SCA7 exhibits marked genetic anticipation, caused by expansion of CAG trinucleotide repeat within the ATXN7 gene during parent-to-child transmission. Neurologic defects include ataxia, dysarthria, dysphagia, and pyramidal signs. Visual symptoms include progressive central vision loss, photosensitivity, dyschromatopsia, optic atrophy, nystagmus, and difficulties with saccades and pursuits. |
| Date |
2014-03-04 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2014 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2014: Poster Presentations |
| 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 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6vb1ft7 |
| Setname |
ehsl_novel_nam |
| ID |
184024 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6vb1ft7 |
