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Riv ACTA Myo 1 2018.Pdf ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) Vol. XXXVII - March 2018 Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Three-monthly EDITOR-IN-CHIEF Luisa Politano ASSISTANT EDITOR Vincenzo Nigro CO-EDITORS Lefkos Middleton Gabriele Siciliano Giuseppe Novelli Haluk Topaloglu Reinhardt Rüdel Antonio Toscano Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Three-monthly EDITORIAL BOARD Corrado Angelini, Padova Clemens Müller, Würzburg Enrico Bertini, Roma Francesco Muntoni, London Serge Braun, Paris Carmen Navarro, Vigo Kate Bushby, Newcastle upon Tyne Gerardo Nigro, Napoli Kevin P. Campbell, Iowa City Anders Oldfors, Göteborg Marinos Dalakas, Athens Elena Pegoraro, Padova Feza Deymeer, Instanbul Heinz Reichmann, Dresden Salvatore Di Mauro, New York Filippo Maria Santorelli, Pisa Denis Duboc, Paris Serenella Servidei, Roma Victor Dubowitz, London Piraye Serdaroglu, Instanbul Massimiliano Filosto, Brescia Yeuda Shapira, Jerusalem Fayçal Hentati, Tunis Osman I. Sinanovic, Tuzla Frank Lehmann-Horn, Ulm Michael Sinnreich, Montreal Michelangelo Mancuso, Pisa Andoni J. Urtizberea, Hendaye Giovanni Meola, Milano Steve Wilton, Perth Eugenio Mercuri, Roma Massimo Zeviani, London Carlo Minetti, Genova Janez Zidar, Ljubliana EDITOR-IN-CHIEF CO-EDITORS Luisa Politano, Napoli Lefkos Middleton, Nicosia Giuseppe Novelli, Roma ASSISTANT EDITOR Reinhardt Rüdel, Ulm Vincenzo Nigro, Napoli Gabriele Siciliano, Pisa Haluk Topaloglu, Ankara Antonio Toscano, Messina EDITORIAL STAFF TBA BOARD OF THE MEDITERRANEAN SOCIETY OF MYOLOGY H. Topaloglu, President L.T. Middleton, G. Siciliano, Vice-presidents K. Christodoulou, Secretary L. Politano, Treasurer E. Abdel-Salam, M. Dalakas, F. Deymeer, F. Hentati, G. Meola, Y. Shapira, E. Tizzano, A. Toscano, J. Zidar Co-opted Members: V. Askanas, S. Di Mauro, R. Rüdel Acta Myologica publishes 4 issues per year in March, June, September, December. The Journal is available in OPEN ACCESS at: www.actamyologica.it Acta Myologica is cited in Index Medicus/MEDLINE, Medicine, Excerpta Medica Database (EMBASE), Index Copernicus and monitored for coverage in Chemical Abstracts Service. The Journal is available on PubMed Central (http://www.ncbi.nlm.nih. gov/pmc/journals/1221/). All correspondence should be addressed to: Mediterranean Society of Myology - Cardiomyology and Medical Genetics - Primo Policlinico - Piazza Miraglia - 80138 Naples, Italy - Tel. +39 081 566 5300 - Fax +39 081 566 5101. Editor in Chief: Luisa Politano Tribunal Authorization, Napoli N. 3827, January 10, 1989 - Journal registered at “Registro pubblico degli Operatori della Comunicazione” (Pacini Editore srl registration n. 6269 - 29/8/2001). The editor remains at the complete disposal of those with rights whom it was impossible to contact, and for any omissions. © 1981 Gaetano Conte Academy. All rights reserved. The Journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy and the following terms and conditions apply to their use: Photocopies, for personal use, are permitted within the limits of 15% of each publication by following payment to SIAE of the charge due, article 68, paragraphs 4 and 5 of the Law April 22, 1941, No 633. Reproductions for professional or commercial use or for any other other purpose other than personal use can be made following a written request and specific authorization in writing from AIDRO, Corso di Porta Romana, 108, 20122 Milan, Italy, E-mail: [email protected] and web site: www.aidro.org. Publisher Via A. Gherardesca - 56121 Pisa, Italy Published by Pacini Editore Srl - Pisa, Italy, May 2018 CONTENTS EDITORIAL Luisa Politano .............................................................................. 1 ORIGINAL ARTICLE SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family Luciano José Almendra Frias Vieira, Francisco Eduardo Da Rocha Laranjeira and Luís Jorge Mendonça Peres Negrão ......................................................... 2 CASE REPORT Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment Anna Rago, Andrea Antonio Papa, Dario Galante, Antonio Cassese and Paolo Golino ...................... 5 PROCEEDINGS OF THE XVIII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY Genoa, Italy – June 6-9, 2017 Scientific Programme ......................................................................... 9 Abstracts of invited lectures .................................................................... 35 Abstracts of oral communications ............................................................... 46 Muscle Club Session ......................................................................... 58 Abstracts of poster communications ............................................................. 60 Informazioni Scientifiche ...................................................................... 90 NEWS FROM AROUND THE WORLD AIM ...................................................................................... 98 MSM ..................................................................................... 98 WMS ..................................................................................... 98 FORTHCOMING MEETINGS ............................................................... 99 Author Index ............................................................................... 111 Instructions for Authors ....................................................................... 116 Acta Myologica • 2018; XXXVII: p. 1 EDITORIAL With the first issue of the year 2018, a new chapter young and talented colleagues who will surely bring the opens for Acta Myologica. enthusiasm and propulsion necessary for the further de- After 35 years of continuous direction of the jour- velopment of the Journal. Applications are open. nal by Prof. Giovanni Nigro, it is my honour and duty to This issue hosts the Proceedings of the Congress of carry on his work. the Italian Association of Myology, which this year cel- In this difficult task, the new entries Gabriele Sicili- ebrates its eighteenth birthday in the splendid setting of ano, Haluk Topaloglu and Antonio Toscano will be of Genoa. great help as Associate Editors. However, I also count My thanks to all those who have agreed to share this very much on the contribution of the new members of journey with us. the Editorial Board, Massimiliano Filosto, Michelan- gelo Mancuso, Giovanni Meola, Eugenio Mercuri, Elena Pegoraro, Filippo M. Santorelli and Massimo Zeviani. Vincenzo Nigro – Assistant Editor of the Journal – Luisa Politano and I decided to set up an “editorial staff” composed of Editor-in-Chief of Acta Myologica 1 Acta Myologica • 2018; XXXVII: p. 2-4 ORIGINAL ARTICLE SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family Luciano Almendra1, Francisco Laranjeira2 , Ana Fernández-Marmiesse3, Luís Negrão1 1 Consulta de Doenças Neuromusculares, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-075 Coimbra, Portugal; 2 Centro de Genética Clínica, Centro Hospitalar do Porto; 3 Unidad de Diagnóstico y Tratamiento de Enfermidades Metabolicas Congénitas (UDyTEMC), Hospital Clínico Universitário de Santiago de Compostela SIGMAR1 gene encodes a non-opioid endoplasmic reticu- tions, 80% of patients with dHMN have a mutation in an lum (ER) protein which is involved in a large diversity of cell as-yet undiscovered gene (3). functions and is expressed ubiquitously in both central and The sigma-1 receptor (s1R) encoded by the SIGMAR1 peripheral nervous systems. Alterations of its normal func- tion may contribute to two different phenotypes: juvenile gene, is a non-opioid endoplasmic reticulum (ER) protein, amyotrophic lateral sclerosis (ALS 16) and distal hereditary with a molecular mass of 24 kDa, which is involved in a motor neuropathies (dHMN). We present the case of a female large diversity of cell functions and is expressed ubiquitous- patient, of 37-years-old, with distal muscle weakness and atro- ly in both central and peripheral nervous systems (4, 5). It is phy beginning in childhood and slowly progressive in the first enriched in motor neurons of the brainstem and spinal cord two decades of life. Neurological examination revealed a sym- metrical severe muscle wasting and weakness in distal lower and plays a role in wide variety of cellular functions being and upper limbs, with claw hands, footdrop with equinovarus critical for neuronal survival and maintenance (6). Protein deformity and hammer toes, generalized areflexia and normal abnormal function has been implicated in several diseases sensory examination. The electrodiagnostic study revealed such as Alzheimer’s disease, schizophrenia, stroke, cogni- a pure chronic motor peripheral nerve involvement without tion and depression (5). More recently it has been associ- signs of demyelination. The molecular study found the dele- tion c.561_576del on exon 4 and a deletion of all exon 4, in the ated with two different phenotypes of motor neuron dis- SIGMAR1 gene. ease: juvenile amyotrophic lateral sclerosis (ALS 16) (7) and distal hereditary motor neuropathy (dHMN) (2). Key words: SIGMAR1 gene, motor neuron disease, distal heredi- We present the
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