| Identifier |
20040330_nanos_sciplatform3_05 |
| Title |
Neuro-Ophthalmology of Late-Onset Tay Sachs Disease |
| Creator |
Janet C. Rucker; Barbara E. Shapiro; Yanning Han; Arun N. Kumar; R.J. Leigh |
| Affiliation |
(JCR) (BES) (YH) (ANK) (RJL) Cleveland, OH |
| Subject |
late-onset Tay Sachs; eye movements; saccades |
| Description |
LOTS is an adult-onset chronic progressive variant of GM2 gangliosidosis, an autosomal recessively inherited disorder of sphingolipid metabolism most common in Ashkenazi Jews. Anterior horn cells and the cerebellum are prominent sites of histopathologic involvement, with resultant typical clinical findings of lower motor neuron weakness, ataxia, intention tremor, and dysarthria. Diagnosis is confirmed by demonstrating a low percentage of Beta-hexosaminidase A in serum, fibroblasts, or leukocytes. |
| Date |
2004-03-30 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2004 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2004: Scientific Platform Presentations (Session 3) |
| 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 2004. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s68p95zx |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
181451 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s68p95zx |
