Identifier |
20190317_nanos_posters_081 |
Title |
Rapidly progressing retinal dystrophy in Spinocerebellar Ataxia 7 (SCA7): A case report of three brothers |
Creator |
Gideon Nkrumah; Ellen Mitchell; Catalina Cleves-Bayon; Hannah Scanga |
Affiliation |
(GN) University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; (EM) UPMC Eye Center, Eye and Ear Institute, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; (CC) Child Neurology Division, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; (HS) UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania |
Subject |
Pediatric Neuro-Ophthalmology; Ocular Manifestations of Vestibular Disorders; Genetic Disease; Orbit/Ocular Pathology |
Description |
SCA7, an autosomal dominant neurodegenerative disorder with retinal degeneration, is caused by CAG repeat expansion usually >36 in the ATXN7gene1,2. The ATXN7, normally <17 repeats, is responsible for chromatin remodeling through deubiquination to enhance transcription. Aggregates of expanded ATXN7complexes decrease deubiquination and create toxicity, leading to early cell death affecting retinal photoreceptors and cerebellum. These abnormal repeats show anticipation with the potential for marked expansion in subsequent generations, leading to severe disease. We present a family with SCA7 in whom very slight variations in expansion lead to devastating phenotypes. |
Date |
2019-03 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2019 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NAM 2019: Poster Session I: Clinical Highlights in Neuro-Ophthalmology |
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 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6b32cpx |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1432301 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6b32cpx |