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      Optic Disc Edema Associated with Spinocerebellar Degeneration

      case-report

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          Abstract

          A 58-year-old man presented with optic disc edema as a rare association with spinocerebellar degeneration (SCD). The patient also had chronic idiopathic intestinal pseudo-obstruction with hypoalbuminemia. No elevation of intraspinal pressure and no intracranial lesion was observed. The hypoalbuminemia reacted promptly to treatment, whereas the optic disc edema regressed gradually. An association between SCD and optic atrophy has often been described, but to our knowledge this is the first report of SCD in association with optic disc edema.

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          Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

          H T Orr, M Y Chung, S. Banfi … (1993)
          Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.
          Article 0 comments Cited 248 times – based on 0 reviews     Review now
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            Author and article information

            Journal
            Journal ID (publisher-id): OPH
            Journal ID (nlm-ta): Ophthalmologica
            Journal ID (doi): 10.1159/issn.0030-3755
            Title: Ophthalmologica
            Publisher: S. Karger AG
            ISSN (Print): 0030-3755
            ISSN (Electronic): 1423-0267
            Publication date Subscription-year: 1998
            Publication date (Print): August 1998
            Publication date (Electronic): 18 June 1998
            Volume: 212
            Issue: 4
            Pages: 281-283
            Affiliations
            Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Miyagi, Japan
            Article
            Publisher ID: 27308 Other ID: Ophthalmologica 1998;212:281–283
            DOI: 10.1159/000027308
            PubMed ID: 9672220
            SO-VID: 97f96cc1-edff-44fd-a6c3-9879a431a588
            Copyright © © 1998 S. Karger AG, Basel
            License:

            Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

            History
            Page count
            Pages: 3
            Categories
            Subject: Case Report · Description de cas · Fallbericht

            ScienceOpen disciplines: Vision sciences,Ophthalmology & Optometry,Pathology
            Keywords: Spinocerebellar degeneration,Hyperlipidemia,Idiopathic intestinal pseudo-obstruction,Optic disc edema,Hypoalbuminemia
            Data availability:
            ScienceOpen disciplines: Vision sciences, Ophthalmology & Optometry, Pathology
            Keywords: Spinocerebellar degeneration, Hyperlipidemia, Idiopathic intestinal pseudo-obstruction, Optic disc edema, Hypoalbuminemia

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