eanpages
  • General interest
    • All Executive Page EAN News EAN Congress news Interviews
      Executive Page

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      EAN News

      EAN Contributes to Global Brain Health Agenda at UNGA78 with Leadership Presence

      September 28, 2023

      EAN News

      Earthquake in Morocco – EAN Statement

      September 11, 2023

      EAN News

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      Executive Page

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      Executive Page Dear EAN members, dear friends, It is my pleasure to give you an update on behalf of the EAN Scientific Committee following a busy year since my appointment as chair. It has been a privilege to be so deeply involved in the scientific activities of the EAN and to work closely with an amazing community of people who are so dedicated to the advancement of neurology. One of the strongest threads within that community is the EAN’s group of Scientific Panels, which are often referred to as the organisation’s ‘scientific backbone’. The panels have a hand in everything the EAN does from a scientific point of view, including coordinating clinical research, disseminating good practice, assisting in planning the EAN annual congress, supporting the EAN’s educational efforts, and producing guidelines that assist neurologists in daily practice. All of this work requires a considerable amount of oversight, and this is why each panel is run by its own Management Group, elected by the panel members. Being a part of one of these Management Groups (PDF) is an opportunity to play a direct part in determining the direction of scientific progress within Europe, and I am excited to say that the call for applications to stand for election will be announced in September. All panel members and EAN individual members are eligible to apply to be candidates, with the vote being held among the existing panel members in autumn. I would like to urge every neurologist with a passion for the scientific future of their special area of interest to consider standing for election to the relevant Management Group and to look out for the call for applications later this month. I can tell you from personal experience that fulfilling a role such as this within the structure of the EAN is a fascinating and extremely rewarding experience. The chance to take on such a unique leadership position should not be missed! The most satisfying aspect of being involved in the EAN’s organisational structure is surely seeing all the hard work and planning come to fruition when a small idea evolves into a newly launched project. One such example is the 1st EAN Science School, taking place in Salzburg next March. The idea of the Science School is to offer early career neurologists with an interest in translational research a new avenue for learning about basic pathomechanisms of neurological disorders. Application for this very first edition, on ‘Pathophysiology of disorders of the nervous system’, closed last week and we have been delighted with the level of interest. It was a pleasure to be part of the task force in charge of planning this new project and I look forward to seeing it officially transferred to the hands of the Scientific Committee after a successful event and evaluation in spring. Of our ongoing activities, one of the most significant is the EAN Neuro-covid Registry, which aims to collate epidemiological data on neurological manifestations in patients with COVID-19 infection reported by neurologists in outpatient services, emergency rooms, and hospital departments. We currently have 1,542 patients entered in the database, from 35 centres across 23 countries. So far, 29 patients have been followed for 12 months and 387 have completed the 6-months follow up. This is a decent start, but I would like to strongly encourage EAN members and their institutions to get involved and contribute cases to what will become an invaluable resource for neurologists and clinicians to improve care for Covid-19 patients. Finally, I would like share a word on a forthcoming collaboration between EAN and the Human Brain Project in December, that I think will interest a lot of EAN members. The EAN-EBRAINS joint workshop on ‘The future of medical data sharing in clinical neurosciences’ will be a three-day virtual event that aims to discuss issues and challenges associated with data sharing in Europe, from ethics to data safety and privacy, including those specific to data federation, such as the development and validation of federated algorithms. The whole workshop is completely free of charge and registration is open until 25 November, so please check out the details and sign up! I wish you all a healthy and pleasant autumn and I look forward to updating you again. Best wishes Thomas Berger Chair of the EAN Scientific Committee

      Executive Page: Management Group elections are coming – run for office and help shape our future!

      September 1, 2023

      Executive Page

      Executive Page: Thank you for making the EAN Congress 2023 a great success!

      July 24, 2023

      Executive Page

      Executive Page: Get ready for EAN 2023 in Budapest!

      June 1, 2023

      EAN News

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      EAN News

      EAN Contributes to Global Brain Health Agenda at UNGA78 with Leadership Presence

      September 28, 2023

      EAN News

      Earthquake in Morocco – EAN Statement

      September 11, 2023

      EAN News

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      EAN Congress news

      African Academy of Neurology features in Special Studio Session at EAN 2023

      July 25, 2023

      EAN Congress news

      Find photos, facts, figures and reports in our EAN Congress Review

      July 24, 2023

      EAN Congress news

      Executive Page: Thank you for making the EAN Congress 2023 a great success!

      July 24, 2023

      EAN Congress news

      Special Session on Guidelines at the EAN Congress: Meet the new EAN Guidelines

      July 21, 2023

      Interviews

      Video Interview: Prof. Mary Reilly, Moritz Romberg lecturer at EAN 2023

      July 4, 2023

      Interviews

      Video Interview: Mark Hallett, C. Brown-Séquard lecturer at EAN 2023

      July 3, 2023

      Interviews

      Video Interview: Josep Dalmau, Camillo Golgi Lecturer at EAN 2023

      July 2, 2023

      Interviews

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

  • Academic/Scientific
    • All Paper of the Month Neurology updates COVID-19 Eur J Neurol Scientific Corner
      Academic/Scientific

      Open Call: EMA seeks new data partners for DARWIN EU – deadline 31 October

      September 29, 2023

      EAN News

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      EAN News

      European Journal of Neurology to be fully open access from January 1 2024

      September 7, 2023

      Paper of the Month

      Research Paper of the Month: Soluble Nogo-Receptor-Fc decoy (AXER-204) in patients with chronic cervical spinal cord injury in the USA

      September 1, 2023

      Paper of the Month

      Research Paper of the Month: Soluble Nogo-Receptor-Fc decoy (AXER-204) in patients with chronic cervical spinal cord injury in the USA

      September 1, 2023

      Paper of the Month One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – September 2023

      September 1, 2023

      Paper of the Month

      Research Paper of the Month: Vorasidenib in IDH1- or IDH2-Mutant Low-Grade Glioma

      July 24, 2023

      Paper of the Month One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlight of the Month – July 2023

      July 24, 2023

      Neurology updates

      Performance of the 2017 and 2010 Revised McDonald Criteria in Predicting MS Diagnosis After a Clinically Isolated Syndrome – A MAGNIMS Study

      September 26, 2022

      Neurology updates

      Relapse-independent disability worsening plays a relevant role in every disease phase of MS

      September 26, 2022

      Neurology updates

      Epstein-Barr virus infection is a major risk factor for the development of multiple sclerosis

      September 26, 2022

      Neurology updates

      Glymphatic system impairment may contribute to multiple sclerosis pathology

      September 23, 2022

      COVID-19

      COVID-19 Research Round-Up: Literature reviews – April 2023

      April 26, 2023

      COVID-19

      COVID-19 Research Round-Up: Cross-Sectional Case Control Studies – April 2023

      April 26, 2023

      COVID-19

      COVID-19 Research Round-Up: Case Series/Case Reports – April 2023

      April 26, 2023

      COVID-19

      COVID-19 Research Round-Up: Literature reviews – March 2023

      March 16, 2023

      Eur J Neurol

      European Journal of Neurology to be fully open access from January 1 2024

      September 7, 2023

      Eur J Neurol

      Reasons to publish open access with European Journal of Neurology

      August 24, 2023

      Eur J Neurol

      Video Interview: European Journal of Neurology Award winner, Dr. Jonathan Coutinho

      July 18, 2022

      Eur J Neurol

      EAN NeuroCOVID-19 Task Force position paper on COVID-19 vaccination hesitancy among people with chronic neurological disorders

      May 2, 2022

      Scientific Corner

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      Scientific Corner

      Special Session on Guidelines at the EAN Congress: Meet the new EAN Guidelines

      July 21, 2023

      Scientific Corner

      EAN Guideline Education and Cost-Conscious Healthcare (CoCoCare) kick-off workshop in Budapest 2023

      July 21, 2023

      Scientific Corner

      EAN Guidelines Workshop 2023: From questions to recommendations

      July 21, 2023

  • Educational
    • All eLearning Student Corner Resident and Research Fellows Fellowship reports Education corner
      Education corner Close up photo of a Black graduation cap and yellow tassel

      European Board Exam in Neurology – how to take it and how to help out

      September 20, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      eLearning

      World Brain Day with the European Academy of Neurology

      July 21, 2023

      eLearning

      New eanCampus content especially for EAN 2023

      June 30, 2023

      eLearning

      eanCampus: An Award-Winning e-Learning Experience

      June 28, 2023

      eLearning

      One year of the eanCampus – An Interview with the e-Learning Editorial Board

      June 27, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

      Student Corner Illustration of a vertical pencil point on a blue background, with a yellow light bulb above it

      Student Corner: My EAN Congress experience

      September 5, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Rotterdam, London, & Paris

      August 22, 2023

      Student Corner

      Student Teaser Fellowship winners 2023

      June 28, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      Resident and Research Fellows

      Application deadline approaching for 2024 EAN Clinical Fellowships

      September 7, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      Fellowship reports

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

      Education corner Close up photo of a Black graduation cap and yellow tassel

      European Board Exam in Neurology – how to take it and how to help out

      September 20, 2023

      Education corner

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Education corner

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Education corner

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

  • Other News
    • All EAN Staff EBC News in general Surveys
      EAN Staff

      EAN Head Office Profiles: Kathrin & Sasha

      August 28, 2023

      General interest

      WHO’s Intersectoral Global Action Plan on epilepsy and other neurological disorders (IGAP) published in all six UN languages

      August 3, 2023

      EAN Staff Anja Sander receiving flowers at the end of EAN Congress 2023

      Celebrating 20 Years of Excellence: Anja Sander, EAN’s Executive Director!

      August 3, 2023

      EAN News

      WHO recognises the public health need for effective and affordable treatments for multiple sclerosis

      August 3, 2023

      EAN Staff

      EAN Head Office Profiles: Kathrin & Sasha

      August 28, 2023

      EAN Staff Anja Sander receiving flowers at the end of EAN Congress 2023

      Celebrating 20 Years of Excellence: Anja Sander, EAN’s Executive Director!

      August 3, 2023

      EAN Staff

      EAN Head Office Profiles: Dauren & Benita

      June 5, 2023

      EAN Staff

      EAN Head Office Profiles: Kristián & Anna

      May 2, 2023

      EBC

      Brain Innovation Days: Discover the early programme and register today!

      July 21, 2023

      EBC

      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      EBC

      EBC & EFPIA launch RETHINKING Alzheimer’s disease White Paper

      March 22, 2023

      EBC

      Registration and call for abstracts launched for 2023 Brain Innovation Days

      March 21, 2023

      News in general

      WHO’s Intersectoral Global Action Plan on epilepsy and other neurological disorders (IGAP) published in all six UN languages

      August 3, 2023

      News in general

      WHO recognises the public health need for effective and affordable treatments for multiple sclerosis

      August 3, 2023

      News in general

      Brain Innovation Days: Discover the early programme and register today!

      July 21, 2023

      News in general

      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      Surveys

      Neurorehabilitation Across Europe after Ischemic and Traumatic Brain Injuries: a survey to increase knowledge on brain-injury-specific neurorehabilitation

      July 14, 2023

      Surveys

      ILAE survey on genetic testing in the epilepsies

      July 14, 2023

      Surveys

      COVID-19 and neurology: a survey of previous and continued restrictions on clinical practice, professional education and neuroeconomics

      March 3, 2023

      Surveys

      Help EAN contribute towards the development of a European Pain Research strategy

      December 5, 2022

  • EAN
  • Congress 2023
  • EANpages
  • EAN Campus
  • Eur J Neurol
  • Virtual Congress

eanpages

  • General interest
    • All Executive Page EAN News EAN Congress news Interviews
      Executive Page

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      EAN News

      EAN Contributes to Global Brain Health Agenda at UNGA78 with Leadership Presence

      September 28, 2023

      EAN News

      Earthquake in Morocco – EAN Statement

      September 11, 2023

      EAN News

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      Executive Page

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      Executive Page Dear EAN members, dear friends, It is my pleasure to give you an update on behalf of the EAN Scientific Committee following a busy year since my appointment as chair. It has been a privilege to be so deeply involved in the scientific activities of the EAN and to work closely with an amazing community of people who are so dedicated to the advancement of neurology. One of the strongest threads within that community is the EAN’s group of Scientific Panels, which are often referred to as the organisation’s ‘scientific backbone’. The panels have a hand in everything the EAN does from a scientific point of view, including coordinating clinical research, disseminating good practice, assisting in planning the EAN annual congress, supporting the EAN’s educational efforts, and producing guidelines that assist neurologists in daily practice. All of this work requires a considerable amount of oversight, and this is why each panel is run by its own Management Group, elected by the panel members. Being a part of one of these Management Groups (PDF) is an opportunity to play a direct part in determining the direction of scientific progress within Europe, and I am excited to say that the call for applications to stand for election will be announced in September. All panel members and EAN individual members are eligible to apply to be candidates, with the vote being held among the existing panel members in autumn. I would like to urge every neurologist with a passion for the scientific future of their special area of interest to consider standing for election to the relevant Management Group and to look out for the call for applications later this month. I can tell you from personal experience that fulfilling a role such as this within the structure of the EAN is a fascinating and extremely rewarding experience. The chance to take on such a unique leadership position should not be missed! The most satisfying aspect of being involved in the EAN’s organisational structure is surely seeing all the hard work and planning come to fruition when a small idea evolves into a newly launched project. One such example is the 1st EAN Science School, taking place in Salzburg next March. The idea of the Science School is to offer early career neurologists with an interest in translational research a new avenue for learning about basic pathomechanisms of neurological disorders. Application for this very first edition, on ‘Pathophysiology of disorders of the nervous system’, closed last week and we have been delighted with the level of interest. It was a pleasure to be part of the task force in charge of planning this new project and I look forward to seeing it officially transferred to the hands of the Scientific Committee after a successful event and evaluation in spring. Of our ongoing activities, one of the most significant is the EAN Neuro-covid Registry, which aims to collate epidemiological data on neurological manifestations in patients with COVID-19 infection reported by neurologists in outpatient services, emergency rooms, and hospital departments. We currently have 1,542 patients entered in the database, from 35 centres across 23 countries. So far, 29 patients have been followed for 12 months and 387 have completed the 6-months follow up. This is a decent start, but I would like to strongly encourage EAN members and their institutions to get involved and contribute cases to what will become an invaluable resource for neurologists and clinicians to improve care for Covid-19 patients. Finally, I would like share a word on a forthcoming collaboration between EAN and the Human Brain Project in December, that I think will interest a lot of EAN members. The EAN-EBRAINS joint workshop on ‘The future of medical data sharing in clinical neurosciences’ will be a three-day virtual event that aims to discuss issues and challenges associated with data sharing in Europe, from ethics to data safety and privacy, including those specific to data federation, such as the development and validation of federated algorithms. The whole workshop is completely free of charge and registration is open until 25 November, so please check out the details and sign up! I wish you all a healthy and pleasant autumn and I look forward to updating you again. Best wishes Thomas Berger Chair of the EAN Scientific Committee

      Executive Page: Management Group elections are coming – run for office and help shape our future!

      September 1, 2023

      Executive Page

      Executive Page: Thank you for making the EAN Congress 2023 a great success!

      July 24, 2023

      Executive Page

      Executive Page: Get ready for EAN 2023 in Budapest!

      June 1, 2023

      EAN News

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      EAN News

      EAN Contributes to Global Brain Health Agenda at UNGA78 with Leadership Presence

      September 28, 2023

      EAN News

      Earthquake in Morocco – EAN Statement

      September 11, 2023

      EAN News

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      EAN Congress news

      African Academy of Neurology features in Special Studio Session at EAN 2023

      July 25, 2023

      EAN Congress news

      Find photos, facts, figures and reports in our EAN Congress Review

      July 24, 2023

      EAN Congress news

      Executive Page: Thank you for making the EAN Congress 2023 a great success!

      July 24, 2023

      EAN Congress news

      Special Session on Guidelines at the EAN Congress: Meet the new EAN Guidelines

      July 21, 2023

      Interviews

      Video Interview: Prof. Mary Reilly, Moritz Romberg lecturer at EAN 2023

      July 4, 2023

      Interviews

      Video Interview: Mark Hallett, C. Brown-Séquard lecturer at EAN 2023

      July 3, 2023

      Interviews

      Video Interview: Josep Dalmau, Camillo Golgi Lecturer at EAN 2023

      July 2, 2023

      Interviews

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

  • Academic/Scientific
    • All Paper of the Month Neurology updates COVID-19 Eur J Neurol Scientific Corner
      Academic/Scientific

      Open Call: EMA seeks new data partners for DARWIN EU – deadline 31 October

      September 29, 2023

      EAN News

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      EAN News

      European Journal of Neurology to be fully open access from January 1 2024

      September 7, 2023

      Paper of the Month

      Research Paper of the Month: Soluble Nogo-Receptor-Fc decoy (AXER-204) in patients with chronic cervical spinal cord injury in the USA

      September 1, 2023

      Paper of the Month

      Research Paper of the Month: Soluble Nogo-Receptor-Fc decoy (AXER-204) in patients with chronic cervical spinal cord injury in the USA

      September 1, 2023

      Paper of the Month One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – September 2023

      September 1, 2023

      Paper of the Month

      Research Paper of the Month: Vorasidenib in IDH1- or IDH2-Mutant Low-Grade Glioma

      July 24, 2023

      Paper of the Month One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlight of the Month – July 2023

      July 24, 2023

      Neurology updates

      Performance of the 2017 and 2010 Revised McDonald Criteria in Predicting MS Diagnosis After a Clinically Isolated Syndrome – A MAGNIMS Study

      September 26, 2022

      Neurology updates

      Relapse-independent disability worsening plays a relevant role in every disease phase of MS

      September 26, 2022

      Neurology updates

      Epstein-Barr virus infection is a major risk factor for the development of multiple sclerosis

      September 26, 2022

      Neurology updates

      Glymphatic system impairment may contribute to multiple sclerosis pathology

      September 23, 2022

      COVID-19

      COVID-19 Research Round-Up: Literature reviews – April 2023

      April 26, 2023

      COVID-19

      COVID-19 Research Round-Up: Cross-Sectional Case Control Studies – April 2023

      April 26, 2023

      COVID-19

      COVID-19 Research Round-Up: Case Series/Case Reports – April 2023

      April 26, 2023

      COVID-19

      COVID-19 Research Round-Up: Literature reviews – March 2023

      March 16, 2023

      Eur J Neurol

      European Journal of Neurology to be fully open access from January 1 2024

      September 7, 2023

      Eur J Neurol

      Reasons to publish open access with European Journal of Neurology

      August 24, 2023

      Eur J Neurol

      Video Interview: European Journal of Neurology Award winner, Dr. Jonathan Coutinho

      July 18, 2022

      Eur J Neurol

      EAN NeuroCOVID-19 Task Force position paper on COVID-19 vaccination hesitancy among people with chronic neurological disorders

      May 2, 2022

      Scientific Corner

      New EAN Coordinating Panel on Functional Neurological Disorders – Call for Applications

      September 7, 2023

      Scientific Corner

      Special Session on Guidelines at the EAN Congress: Meet the new EAN Guidelines

      July 21, 2023

      Scientific Corner

      EAN Guideline Education and Cost-Conscious Healthcare (CoCoCare) kick-off workshop in Budapest 2023

      July 21, 2023

      Scientific Corner

      EAN Guidelines Workshop 2023: From questions to recommendations

      July 21, 2023

  • Educational
    • All eLearning Student Corner Resident and Research Fellows Fellowship reports Education corner
      Education corner Close up photo of a Black graduation cap and yellow tassel

      European Board Exam in Neurology – how to take it and how to help out

      September 20, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      eLearning

      World Brain Day with the European Academy of Neurology

      July 21, 2023

      eLearning

      New eanCampus content especially for EAN 2023

      June 30, 2023

      eLearning

      eanCampus: An Award-Winning e-Learning Experience

      June 28, 2023

      eLearning

      One year of the eanCampus – An Interview with the e-Learning Editorial Board

      June 27, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

      Student Corner Illustration of a vertical pencil point on a blue background, with a yellow light bulb above it

      Student Corner: My EAN Congress experience

      September 5, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Rotterdam, London, & Paris

      August 22, 2023

      Student Corner

      Student Teaser Fellowship winners 2023

      June 28, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      Resident and Research Fellows

      Application deadline approaching for 2024 EAN Clinical Fellowships

      September 7, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      Fellowship reports

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

      Education corner Close up photo of a Black graduation cap and yellow tassel

      European Board Exam in Neurology – how to take it and how to help out

      September 20, 2023

      Education corner

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Education corner

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Education corner

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

  • Other News
    • All EAN Staff EBC News in general Surveys
      EAN Staff

      EAN Head Office Profiles: Kathrin & Sasha

      August 28, 2023

      General interest

      WHO’s Intersectoral Global Action Plan on epilepsy and other neurological disorders (IGAP) published in all six UN languages

      August 3, 2023

      EAN Staff Anja Sander receiving flowers at the end of EAN Congress 2023

      Celebrating 20 Years of Excellence: Anja Sander, EAN’s Executive Director!

      August 3, 2023

      EAN News

      WHO recognises the public health need for effective and affordable treatments for multiple sclerosis

      August 3, 2023

      EAN Staff

      EAN Head Office Profiles: Kathrin & Sasha

      August 28, 2023

      EAN Staff Anja Sander receiving flowers at the end of EAN Congress 2023

      Celebrating 20 Years of Excellence: Anja Sander, EAN’s Executive Director!

      August 3, 2023

      EAN Staff

      EAN Head Office Profiles: Dauren & Benita

      June 5, 2023

      EAN Staff

      EAN Head Office Profiles: Kristián & Anna

      May 2, 2023

      EBC

      Brain Innovation Days: Discover the early programme and register today!

      July 21, 2023

      EBC

      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      EBC

      EBC & EFPIA launch RETHINKING Alzheimer’s disease White Paper

      March 22, 2023

      EBC

      Registration and call for abstracts launched for 2023 Brain Innovation Days

      March 21, 2023

      News in general

      WHO’s Intersectoral Global Action Plan on epilepsy and other neurological disorders (IGAP) published in all six UN languages

      August 3, 2023

      News in general

      WHO recognises the public health need for effective and affordable treatments for multiple sclerosis

      August 3, 2023

      News in general

      Brain Innovation Days: Discover the early programme and register today!

      July 21, 2023

      News in general

      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      Surveys

      Neurorehabilitation Across Europe after Ischemic and Traumatic Brain Injuries: a survey to increase knowledge on brain-injury-specific neurorehabilitation

      July 14, 2023

      Surveys

      ILAE survey on genetic testing in the epilepsies

      July 14, 2023

      Surveys

      COVID-19 and neurology: a survey of previous and continued restrictions on clinical practice, professional education and neuroeconomics

      March 3, 2023

      Surveys

      Help EAN contribute towards the development of a European Pain Research strategy

      December 5, 2022

Grand Rounds

Case Report: LGMD-2B: Clinical phenotype and diagnosis 50 years after the first symptoms

February 1, 2013

presented by João Martins and Luís Santos

We report the case of a 75-year-old lady who at the age of 25 initiated slowly progressive proximal paresis of lower limbs, and became dependent of a wheelchair when 30 years old. At 55 proximal paresis of upper limbs began and three years later she complained of ventilatory dysfunction predominantly due to diaphragmatic paresis – progressing, years later, to severe restrictive pattern needing BiPAP (Figure 1 – Clinical Chronogram). Recently she was diagnosed with paroxysmal atrial fibrillation and 1st degree AV block but no relevant structural cardiac abnormalities were found.
The performed EMGs showed a myopathic pattern. Many years earlier, two previous Deltoid biopsies gave inconclusive results due to severe muscular destruction and marked adipose and connective tissue infiltration. At that time, she refused more invasive diagnostic procedures and was not rendered a specific clinical diagnosis.
At present (Figure 2 – MRC Functional Muscular Map), she has relatively spared extensor muscles of the wrist and fingers, hip abductors, and toes’ flexors, with severe muscle atrophy and weakness of most of the other muscles (Figure 3 – Patient Pictures), being now bedridden all day long.
Her family tree is depicted in Figure 4. Her parents were not related. She had a sister with a similar clinical phenotype who died in her 70s, also without a specific diagnosis. The patient was married to a first degree cousin and had 5 children: 4 sons (one stillbirth and three floppy babies, who died in the first year of life of unknown cause) and one healthy daughter.
Thinking of an autosomal recessive disease, LGMD phenotype with ventilatory dysfunction and initial diaphragmatic involvement, Pompe disease was recently screened in Hamburg using a dried blood spot (DBS) that showed normal alpha-glucosidase activity, at pH 3.8 with acarbose inhibition (2.21nmol/spot*21h; Normal range: 0.9–7.2), likely excluding this diagnosis.
Based on her clinical relative muscle sparing in the forearm extensor group, and after patient consent, a new muscle biopsy was now performed, at the age of 75 and fifty years after clinical onset of disease, sampling the Extensor digitorum communis. This exam showed typical dystrophic findings, absence of immunohistochemical labelling for dysferlin, with normal staining for sarcoglycans, dystroglycans and dystrophin. Interestingly even now but as sometimes seen in inflammatory dystrophies the biopsy also showed scattered MHC-I up-regulation and some perimysium and perivascular inflammatory infiltrates (Figure 5 – Muscle Biopsy).
We then proceeded to molecular testing and the mutation DYSF: c.610C>T (p.Arg204X) was found, apparently in homozygosis in exon 6, confirming the diagnosis of LGMD type 2B.

Comment by the authors:

This case illustrates the selective relative sparing of certain muscle groups after 50 years of clinical progression of LGMD-2B allowing even then a diagnosis by muscle biopsy and posterior genetic testing.
There is now good evidence that MRI can be very useful in selecting the appropriate muscles for biopsy and also in determining the type of muscular dystrophy through pattern recognition of muscle involvement by the use of MRI muscle maps (1). In this case, MRI muscle maps would not be helpful due to the actual extensive muscle destruction. For biopsy guidance we want to stress that in an era of global economic crisis and low health resources a careful neurologic examination may sometimes suffice.
The presence of inflammatory findings is well described in several muscular dystrophies such as Duchenne, and can be seen in dyspherlinopathies (2). MHC-I detection alone cannot be used as a reliable diagnostic test to differentiate inflammatory myopathies from dystrophies with secondary muscle inflammation and some authors support testing for CD8/MHC-I Complex for differentiation (3,4).
In this case, besides the absent dyspherlin immunostaining, these inflammatory findings could pose diagnostic uncertainty and also ethical concerns about the possibility of a missed treatable condition early on. For that purpose molecular testing is essential. Determining the subtype and etiology of muscle disease in patients with LGMD phenotype is fundamental for genetic counselling, cardiac/respiratory monitoring, further research and therapy.
One final issue that still lacks an explanation is: why did the patient have a stillbirth and three floppy babies that died in their first months of life? LGMD-2B usually does not manifest clinically that way, so we do not think that this curious event is due to this particular type of muscular dystrophy. She married a first degree cousin, so we cannot exclude that they were both carriers of another pathogenic gene.

1. A short protocol for muscle MRI in children with muscular dystrophies. Mercuri E, et al. Eur J Paediatr Neurol 2002; 6(6):305-7
2. Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. Confalonieri P, Oliva L, et al. J Neuroimmunol. 2003; 142(1-2):130-6
3. CD8/MHC-I Complex is Specific but not Sensitive for the Diagnosis of Polymyositis. T-J Dai, W Li, et al. J Int Med Res 2010; 38: 1049-59
4. Review: An Update on Inflammatory and Autoimmune Myopathies. M C Dalakas. Neuropath Appl Neuro 2011; 37: 226-42

João Martins works at the Departments of Neurology at Hospital Pedro Hispano, ULSM in Matosinhos and Hospital de Egas Moniz, CHLO in Lisbon, Portugal.
Luís Santos works at the Departments of Neurology at Hostpial de Egas Moniz, CHLO in Lisbon and Hospital Fernaando Fonseca in Amadory, Portugal.

Comment by Janez Zidar

In contrast to their quite homogeneous clinical presentation, limb-girdle muscular dystrophies (LGMD) are genetically rather heterogeneous diseases; already the group of autosomal recessively inherited LGMD consists of 16 different disease categories. The usual diagnostic approach is to consider the age at onset, initial disease symptoms, pattern of muscle involvement, clinical course, impairment of the respiratory and heart muscles, and laboratory characteristics, e.g. serum CK activity, EMG pattern, muscle imaging, and muscle biopsy findings. Careful evaluation of these data may eventually direct the selection of molecular genetic diagnostic tests. Such scheme is in principle more effective in considering patients in whom the disease is still in its early stage. In later stages, as in the case presented, some facts from the history might be forgotten or less clear. The distinctive features of muscle involvement, typical of one or the other disease, are lost, as – with progression of the disease – muscles become more generally affected. Serum CK activity that might have initially been characteristically high, has declined to low or even normal values. Muscle tissue for histological and biochemical investigations may be more difficult to obtain because of the widespread replacement of muscle by fat and fibrous tissues.
This logic first led the authors to think of Pompe’s disease, as – not systematically enough – they only took into account the presumed autosomal recessive inheritance, LGMD phenotype, and ventilatory dysfunction. The initial diagnosis was not confirmed. By considering clinical data more analytically, the probability of establishing the diagnosis on clinical grounds is likely to increase. Such reasoning may not be necessary in neuromuscular diseases with distinct clinical presentations, but is valuable in groups of diseases with significant genetic and clinical heterogeneities, to which LGMD undoubtedly belongs. I would like to illustrate this by the analysis of the case presented in this Grand Round, though it may not be the best example for the task, as it – in many respects – represents a rather atypical case of dysferlinopathy.
LGMD2B or dysferlinopathy is the disease caused by mutations in the dysferlin gene. With 18.7% of cases, it was the second most frequent form of LGMD in a large cohort of Italian patients (2). Dysferlinopathies most commonly occur in the second or third decades of life, but the age of onset may vary considerably (2). The disease in the case presented started at the age of 25 what matches expectations. The rate of progression is usually slow and many people remain ambulant (2,3,6). This is not true for the presented case and other rare cases from the literature (6) in whom the progression may be rapid with severe affection of upper limbs and axial muscles, and loss of ambulation within the first 5 years after disease commencement.
The severity and pattern of muscle involvement may vary even in cases with the same mutations. Some patients complain of muscle pain and swelling in the legs, especially the calves. The patients’ presenting symptoms and signs were muscle atrophies and weakness with the LGMD distribution. This phenotype is only seen in a rather small percentage of patients. In about two thirds or more (6) the lower limbs especially the calf muscles are atrophic and weak already from the onset, either alone (Miyoshi type of muscular dystrophy) or in combination with the proximal ones (6). Such findings are in contrast to those in most other limb-girdle muscular dystrophies in which calf muscle hypertrophy or pseudohypertrophy dominates. On examination atrophy and weakness of the posterior leg muscles are discovered even in patients with proximal limb and anterior tibial muscle involvement. Of some help in making clinical diagnosis in dysferlinopathies is the early loss of the Achille’s tendon jerks. They are typically the last to be lost in other limb-girdle muscular dystrophies.
Significant heart problems in LGMD2B appear to be rare (2,5). Whether paroxysmal atrial fibrillation and the 1st degree AV block found in the patient may be considered a part of muscular dystrophy could not be resolved. Rare LGMD2B patients may experience breathing difficulties (5,6) due to the respiratory muscle weakness. These problems are usually less severe than in other muscular dystrophies. A quick search of the literature did not reveal any report on a case in which non-invasive artificial ventilation was needed as it was in the patient in question.
The noticeable characteristic of dysferlinopathies is undoubtedly a massive increase of serum CK activity. If patients present with phenotypic characteristics of dysferlinopathy the first advised step towards the diagnosis is the determination of serum CK. It is therefore surprising that the authors did not provide us with this information. It is unlikely that it was not available for them. It may be added that CK values in Pompe’s disease are less increased and may be, in adult patients, even normal. This disease is also well known as the so-called “irritative myopathy” presenting with fibrillation potentials, complex repetitive and myotonic discharges which is in contrast to dysferlinopathy where such spontaneous activity is not expected. The authors of this case report do not point out spontaneous activity. Muscle ultrasonography, CT or MRI imaging can disclose calf and also hamstrings muscle involvement even in cases presenting with CKemia or distal leg painful muscle swelling (5,6). Such specific findings may significantly facilitate the diagnosis. Inflammatory histological findings are other distinct characteristics of the disease, as commented upon by the authors. It may be added that there are quite a number of reports in the literature of such patients unsuccessfully treated by corticosteroids and/or immunosuppressive drugs (6) and many of us know such cases from our own practice.
The most typical phenotype of the LGMD2B (e.g. early distal lower limb muscle involvement, high serum CK values) is so unique that it is difficult to confuse it with other muscular dystrophies. Misdiagnosis is more common in patients with proximal limb weakness than in those with the initial distal posterior compartment involvement in the legs (6). Recently a new type of LGMD (LGMD2L – mutations in the anoctamin gene) was described that may present with the same features and may be mistaken with dysferlinopathy (1,8). There is also the third locus of the Miyoshi distal muscular dystrophy on chromosome 10p (4).
LGMD2B is an autosomal recessive condition. Patients have two defective copies of the dysferlin gene while their parents – asymptomatic but carriers of the disease – have only one such copy. The frequency of carriers in population is not known but is believed to be small. This makes the chance of LGMD2B patients having affected children very low what may not be true if the patient and his partner are related. The latter increases the likelihood of the spouse to have one of the gene copies faulty and raises the probability for that couple to have affected children to 50%. The presenters of the case in this Grand Round are right in saying that LGMD2B is not expected to present with stillbirth or death in the first months of life. However, a congenital form of this disease, resembling congenital muscular dystrophy, has been reported (7). A non-consanguineous family with two affected siblings was found in whom the new disease phenotype was characterized. It consisted of postnatal hypotonia, delay in motor development and marked weakness of pelvic and neck flexor muscles. Progression of the disease was slow. A homozygous frameshift mutation p.Ala927Leu-fsX21 in the dysferlin gene was identified in both siblings. Same pathogenic mutation has been found earlier and could be associated with different disease phenotypes, including asymptomatic hyperCKemia. These two patients with congenital LGMD2B widen the clinical spectrum of this disease, which can be used as an argument that the patient presented in this Grand Round, her late children and other family members, if their tissue specimens were still available, would be worth studying. It is namely not unrealistic to hypothesise that the affected children of this family might have also been affected by LGMD2B.

References
1. Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010; 86; 213-21.
2. Guglieri M, Magri F, D’Angelo MG, Prelle A, Morandi L, Rodolico C, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008; 29(2): 258-66.
3. Linssen WH, Notermans NC, Van der Graaf Y, Wokke JH, Van Doorn PA, Howeler CJ, et al. Miyoshi-type distal muscular dystrophy: clinical spectrum in 24 Dutch patients. Brain 1997; 120(Pt 11): 1989-96.
4. Linssen WH, de Visser M, Notermans NC, Vreyling JP, Van Doorn PA, Wokke JH, et al. Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromuscul Disord 1998; 8: 317-20.
5. Mahjneh I, Marconi G, Bushby K, Anderson LV, Tolvanen-Mahjneh H, Somer H. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord 2001; 11: 20-6.
6. Nguyen K, Bassez G, Krahn M, Bernard R, Laforet P, Labelle V, Urtizberea JA, et al. Phenotypic study in 40 patients with dysferlin gene mutations. Arch Neurol 2007; 64: 1176-82.
7. Paradas C, Gonzáles-Quereda L, De Luna N, Gallardo E, Garcia-Consuegra I, Gomez H, et al. A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord 2009; 19: 21-5.
8. Penttila S, Palmio J, Suominen T, Raheem O, Evila A, Muelas Gomez N, et al. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. 2012; 78: 897-903.

Janez Zidar is Professor of Neurology at the Institute of Clinical Neurophysiology of the University Medical Centre Ljubljana in Slovenia.

Case Report: LGMD-2B: Clinical phenotype and diagnosis 50 years after the first symptoms was last modified: January 28th, 2013 by Editor
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geneticsmuscular dystrophymyopathylimb weaknessmusclelimb girdle muscular dystrophyLGMDdysferlinopathy
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