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      Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

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          Abstract

          In the course of an epidemiological survey in four provinces of Veneto (northeastern Italy) 67 spinal muscular atrophy (SMA) cases (types I, II and III) were recorded. The survey spanned the period 1960–1983 and involved 859,891 consecutive live-born infants in a population of 2,635,800 inhabitants. The overall prevalence at birth for SMA types I, II and IIIwas 7.8/100,000 live births. Type I alone accounted for 4.1/100,000 live births. If the hypothesis that SMA types I, II and III are clinical manifestations of allelic mutations is assumed, the mutation rate would be about 70 X 10<sup>–6</sup> and the frequency of the heterozygotes 1 in 57.

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          Author and article information

          Journal
          NED
          Neuroepidemiology
          10.1159/issn.0251-5350
          Neuroepidemiology
          S. Karger AG
          0251-5350
          1423-0208
          1992
          1992
          14 April 1992
          : 11
          : 1
          : 34-38
          Affiliations
          Departments of a Biology and b Neurology, University of Padua, Italy
          Article
          110905 Neuroepidemiology 1992;11:34–38
          10.1159/000110905
          1608493
          1811c501-86c6-4f67-9bcc-d2b9a0f89b63
          © 1992 S. Karger AG, Basel

          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: 5
          Categories
          Original Paper

          Geriatric medicine,Neurology,Cardiovascular Medicine,Neurosciences,Clinical Psychology & Psychiatry,Public health
          Allelic mutation,Heterozygote,Spinal muscular atrophy

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