eanpages
  • General interest
    • All Executive Page Paper of the Month EAN News EAN Congress news COVID-19 Interviews
      EAN News

      Become a Certified Leader of European Neurology with the new EAN Leadership Programme

      January 24, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      Executive Page

      Executive Page: Submit, register, and join us for EAN 2023

      December 5, 2022

      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: New guideline prioritisation process begins setting path for next two years

      November 1, 2022

      Executive Page EAN Secretary General, 2022. Tony Marson, Liverpool UK.

      Executive Page: More reasons than ever to renew your EAN membership

      October 11, 2022

      Executive Page Head and shoulders portrait photo of Irena Rektorova, in colourful dress

      Executive Page: Challenge of maintaining high standards is a privilege says incoming Education Committee Chair

      September 1, 2022

      Paper of the Month

      Research Paper of the Month: Intensive blood pressure control after endovascular thrombectomy for acute ischaemic stroke (ENCHANTED2/MT)

      January 1, 2023

      Paper of the Month

      COVID-19 Paper of the Month: The decline in stroke hospitalization due to COVID-19 is unrelated to COVID-19 intensity

      January 1, 2023

      Paper of the Month

      Research Paper of the Month: Lecanemab in Early Alzheimer’s Disease

      December 5, 2022

      Paper of the Month

      Covid-19 Paper of the Month: Incidence of Epilepsy and Seizures Over the First 6 Months After a COVID-19 Diagnosis

      December 5, 2022

      EAN News

      Become a Certified Leader of European Neurology with the new EAN Leadership Programme

      January 24, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN Congress news

      EAN launches new ‘Congress Spin-Off with Masterclasses’ event, with first edition in March

      January 10, 2023

      EAN Congress news

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

      EAN Congress news

      EAN 2023 – Join us in Budapest on July 1-4

      September 1, 2022

      EAN Congress news

      Special EAN issue of BrainMag features reports on EAN 2022 and more

      August 30, 2022

      COVID-19

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

      January 17, 2023

      COVID-19

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

      January 17, 2023

      COVID-19

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

      January 17, 2023

      COVID-19

      COVID-19 Paper of the Month: The decline in stroke hospitalization due to COVID-19 is unrelated to COVID-19 intensity

      January 1, 2023

      Interviews

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

      Interviews

      Video Interview: Sleep-Wake Panel Co-Chair, Dr. Evelina Pajediene

      July 28, 2022

      Interviews

      Video: EAN supports World Brain Day

      July 19, 2022

      Interviews

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

      July 18, 2022

  • Academic/Scientific
    • All Breaking news Neurology updates Scientific committee reports Scientific panels reports Eur J Neurol Top 10 Articles Scientific Corner
      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

      Impact of Burnout on Neurology Residents and Research Fellows in Europe

      December 23, 2022

      Breaking news

      COVID-19 Breaking News: Meta-analyses/systematic reviews – November 2022

      November 8, 2022

      Breaking news

      COVID-19 Breaking News: Cross-Sectional Case Control Studies – November 2022

      November 8, 2022

      Breaking news

      COVID-19 Breaking News: Miscellaneous – November 2022

      November 7, 2022

      Breaking news

      COVID-19 Breaking News: Observational Studies – Prospective Longitudinal Cohort – November 2022

      November 7, 2022

      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

      Scientific committee reports

      Scientific Committee Snapshot: Didier Leys

      April 1, 2020

      Scientific committee reports

      Scientific Committee Snapshot: Rigmor Hojland

      February 26, 2020

      Scientific committee reports

      Scientific Committee Snapshot: Christian Enzinger

      December 1, 2019

      Scientific committee reports

      Scientific Committee Snapshot: Maurizio Leone

      November 1, 2019

      Scientific panels reports

      Highlights from the World Muscle Society annual meeting, chosen by the Scientific Panel on Muscle and NMJ Disorders

      November 2, 2022

      Scientific panels reports

      Coma and DOC Panel Update (May-June): news from the EAN Virtual Congress, personalized pain assessment, NIRS-EEG and machine learning to predict outcomes, prevalence of swallowing disorders and new multimodal predictive algorithms.

      August 11, 2020

      Scientific panels reports

      Statement of the EAN Sleep-Wake-Panel

      June 3, 2020

      Scientific panels reports

      Rare Neurological Diseases in the COVID-19 era: Suggestions for information to patients and caregivers

      May 13, 2020

      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

      Eur J Neurol

      European Journal of Neurology welcomes new associate editors

      December 13, 2021

      Eur J Neurol

      New European guideline and expert statements on the management of narcolepsy in adults and children

      June 30, 2021

      Top 10 Articles

      EAN is proud to announce the 2020 Virtual Master Classes Christmas Special

      November 13, 2020

      Top 10 Articles

      EUROPEAN JOURNAL OF NEUROLOGY – TOP 15 ARTICLES 2018

      February 1, 2019

      Top 10 Articles

      Interview with Prof. Patrick Cras – UEMS Section of Neurology (SN)

      February 3, 2018

      Top 10 Articles

      Interview with Mr. Bertrand Daval and Mrs. Nathalie Paulus

      February 3, 2018

      Scientific Corner

      Join the EAN Guideline Workshop on 24 June!

      May 13, 2022

      Scientific Corner

      First EAN Science School proves a hit in Salzburg

      April 1, 2022

      Scientific Corner

      Invitation to the EAN-EBRAINS Joint Workshop on ‘The Future of Medical Data Sharing in Clinical Neurosciences’

      July 2, 2021

      Scientific Corner

      1st EAN Science School, 26-29 March 2022: “Pathophysiology of disorders of the nervous system”

      June 18, 2021

  • Educational
    • All eLearning Student Corner E-Brain Grand Rounds Resident and Research Fellows Fellowship reports Education corner
      Student Corner

      Application for the Student Teaser Fellowship 2023 NOW OPEN

      February 1, 2023

      EAN News

      Become a Certified Leader of European Neurology with the new EAN Leadership Programme

      January 24, 2023

      Fellowship reports

      Clinical Fellowship Reports 2022: Stockholm & Erlangen

      January 18, 2023

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

      Students’ Corner: What neurology taught me in 2022

      January 17, 2023

      eLearning Illustration of two people holding an award between them and jumping in the air in a celebratory pose

      Learn with the eanCampus and win free EAN congress registration!

      January 12, 2023

      eLearning

      Kick off 2023 with highlights on the eanCampus

      January 10, 2023

      eLearning

      December Highlights on the eanCampus!

      December 5, 2022

      eLearning

      November Highlights on the eanCampus!

      November 4, 2022

      Student Corner

      Application for the Student Teaser Fellowship 2023 NOW OPEN

      February 1, 2023

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

      Students’ Corner: What neurology taught me in 2022

      January 17, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Karlsbad, Zagreb & Salzburg

      January 10, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Salzburg, Ramat Gan, & Rostock

      December 30, 2022

      E-Brain

      ebrain May update: new website and podcast series

      May 1, 2021

      E-Brain

      EBRA launches 3rd call for clusters

      May 1, 2020

      E-Brain

      News from ebrain

      February 28, 2020

      E-Brain

      ebrain to host the 2019 Neurology Formative Test Questions, from 15 April to 26 May

      April 1, 2019

      Grand Rounds

      eBrain: virtual case report from Belgium

      October 2, 2017

      Grand Rounds

      Free access to Ebrain for EAN members

      July 1, 2016

      Grand Rounds

      Ebrain granted Royal College of Physicians (UK) CPD/CME accreditation

      July 1, 2016

      Grand Rounds

      ebrain session of the month: neuromuscular junction

      February 1, 2016

      Resident and Research Fellows

      Become a Certified Leader of European Neurology with the new EAN Leadership Programme

      January 24, 2023

      Resident and Research Fellows

      13th Regional Teaching Course in Sub-Saharan Africa – Report

      January 12, 2023

      Resident and Research Fellows Close up photo of a Black graduation cap and yellow tassel

      European Board Examination in Neurology – Reasons to take it and how to contribute

      January 12, 2023

      Resident and Research Fellows

      Third round of pairs matched in EAN Mentorship Programme

      January 12, 2023

      Fellowship reports

      Clinical Fellowship Reports 2022: Stockholm & Erlangen

      January 18, 2023

      Fellowship reports

      Student Teaser Fellowship reports 2022 – Karlsbad, Zagreb & Salzburg

      January 10, 2023

      Fellowship reports

      Clinical Fellowship Reports 2022: Bern & Prague

      December 30, 2022

      Fellowship reports

      Student Teaser Fellowship reports 2022 – Salzburg, Ramat Gan, & Rostock

      December 30, 2022

      Education corner

      Application for the Student Teaser Fellowship 2023 NOW OPEN

      February 1, 2023

      Education corner

      Become a Certified Leader of European Neurology with the new EAN Leadership Programme

      January 24, 2023

      Education corner

      Clinical Fellowship Reports 2022: Stockholm & Erlangen

      January 18, 2023

      Education corner

      13th Regional Teaching Course in Sub-Saharan Africa – Report

      January 12, 2023

  • Other News
    • All EAN Staff Grant opportunities News from EAN member societies EBC EFNA News in general Patients societies reports Surveys Forum
      EAN Staff Composite image consisting of two chest-height portraits ide-by-side

      EAN Head Office Profiles: Katina & Robertina

      February 2, 2023

      Other News Portrait photo of Dr Ralph Sacco, former president of the American Academy of Neurology, in his office, wearing a white lab coat

      In Memoriam: Dr Ralph Sacco, former president of the American Academy of Neurology

      January 19, 2023

      EAN Staff

      EAN Head Office Profiles: Magda & Mira

      December 29, 2022

      News in general

      Registration now open for the launch event of the RETHINKING Alzheimer’s disease White Paper

      December 24, 2022

      EAN Staff Composite image consisting of two chest-height portraits ide-by-side

      EAN Head Office Profiles: Katina & Robertina

      February 2, 2023

      EAN Staff

      EAN Head Office Profiles: Magda & Mira

      December 29, 2022

      EAN Staff

      EAN Head Office Profiles: Peter & Nadine

      November 24, 2022

      EAN Staff

      EAN Head Office Profiles: Katharina & Rena

      October 31, 2022

      Grant opportunities

      1st EAN Science School, 26-29 March 2022: “Pathophysiology of disorders of the nervous system”

      June 18, 2021

      Grant opportunities

      European Commission: Innovation and novelty in medical devices and in vitro diagnostic devices; towards common concepts of innovation-related risk assessments

      November 1, 2019

      Grant opportunities

      GBS|CIDP Foundation International 2020 Research Grant Opportunity

      October 29, 2019

      Grant opportunities

      The Clinical Fellowship application deadline is approaching

      October 1, 2019

      News from EAN member societies

      14 June: Special publication celebrates 10 years of the European Working Group of People with Dementia

      August 2, 2022

      News from EAN member societies

      14 June: Alzheimer Europe hosts European Parliament Lunch Debate examining EU and WHO policies on neurological conditions

      August 2, 2022

      News from EAN member societies

      22 June: Alzheimer Europe invites applications for its new Anti-Stigma Award

      August 2, 2022

      News from EAN member societies

      Alzheimer Europe publishes new reports on ‘sex, gender and sexuality in the context of dementia’, and ‘dementia-inclusive initiatives and communities’

      April 5, 2022

      EBC

      Connecting brains for the future: Brain Innovation Days 2022

      November 23, 2022

      EBC

      Final programme available for Brain Innovation Days – Register now!

      September 22, 2022

      EBC

      EPICLUSTER Final Meeting – shaping the future of epilepsy research in Europe

      August 26, 2022

      EBC

      Registration open for Brain Innovation Days 2022

      August 19, 2022

      EFNA

      OneNeurology European Summit underlines urgent need to prioritise neurology and drive change

      December 31, 2021

      EFNA

      EFNA launch eLearning Platform for neurology advocates

      February 1, 2021

      EFNA

      ‘Me and My Brain’ – Art Competition winners announced!

      February 1, 2021

      EFNA

      Survey on the impact of COVID-19 on neurology service delivery

      November 1, 2020

      News in general

      Registration now open for the launch event of the RETHINKING Alzheimer’s disease White Paper

      December 24, 2022

      News in general

      EAN lecture at the International Neuro-Urology Society annual congress 2022

      May 25, 2022

      News in general

      EPA-EAN Joint Symposium: ‘Etiology and Treatment of the Long Covid-19 Syndrome’ and other highlights at the 30th European Congress of Psychiatry

      May 25, 2022

      News in general

      Organise an EAN-Day or EAN Regional Teaching Course in your Country!

      May 17, 2022

      Patients societies reports

      News from Alzheimer Europe

      March 2, 2020

      Patients societies reports

      News from the WHO

      January 9, 2020

      Patients societies reports

      News from EFIC and the European Pain Forum

      January 3, 2020

      Patients societies reports

      News from EFIC and the European Pain Forum

      January 2, 2020

      Surveys

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

      December 5, 2022

      Surveys

      Survey: management of covert brain infarction

      October 29, 2021

      Surveys

      Driving with an intracranial tumor

      July 13, 2020

      Surveys

      SURVEY: Driving with an intracranial tumor

      June 25, 2020

      Forum

      Call for Applications: e-Learning Platform Editor-in-Chief

      August 4, 2020

      Forum

      Neurological News from Denmark VI – the land of the 2nd EAN congress 2016: Pain Research in Denmark from a neurological perspective

      April 1, 2016

      Forum

      Neurological News from Denmark V – the land of the 2nd EAN congress 2016: Clinical Dementia Research in Denmark

      March 1, 2016

      Forum

      Updated recommendations to minimise the risk of the rare brain infection PML with Tysabri – Comment to EMA recommendation

      March 1, 2016

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

eanpages

  • General interest
    • All Executive Page Paper of the Month EAN News EAN Congress news COVID-19 Interviews
      EAN News

      Become a Certified Leader of European Neurology with the new EAN Leadership Programme

      January 24, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      Executive Page

      Executive Page: Submit, register, and join us for EAN 2023

      December 5, 2022

      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: New guideline prioritisation process begins setting path for next two years

      November 1, 2022

      Executive Page EAN Secretary General, 2022. Tony Marson, Liverpool UK.

      Executive Page: More reasons than ever to renew your EAN membership

      October 11, 2022

      Executive Page Head and shoulders portrait photo of Irena Rektorova, in colourful dress

      Executive Page: Challenge of maintaining high standards is a privilege says incoming Education Committee Chair

      September 1, 2022

      Paper of the Month

      Research Paper of the Month: Intensive blood pressure control after endovascular thrombectomy for acute ischaemic stroke (ENCHANTED2/MT)

      January 1, 2023

      Paper of the Month

      COVID-19 Paper of the Month: The decline in stroke hospitalization due to COVID-19 is unrelated to COVID-19 intensity

      January 1, 2023

      Paper of the Month

      Research Paper of the Month: Lecanemab in Early Alzheimer’s Disease

      December 5, 2022

      Paper of the Month

      Covid-19 Paper of the Month: Incidence of Epilepsy and Seizures Over the First 6 Months After a COVID-19 Diagnosis

      December 5, 2022

      EAN News

      Become a Certified Leader of European Neurology with the new EAN Leadership Programme

      January 24, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN Congress news

      EAN launches new ‘Congress Spin-Off with Masterclasses’ event, with first edition in March

      January 10, 2023

      EAN Congress news

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

      EAN Congress news

      EAN 2023 – Join us in Budapest on July 1-4

      September 1, 2022

      EAN Congress news

      Special EAN issue of BrainMag features reports on EAN 2022 and more

      August 30, 2022

      COVID-19

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

      January 17, 2023

      COVID-19

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

      January 17, 2023

      COVID-19

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

      January 17, 2023

      COVID-19

      COVID-19 Paper of the Month: The decline in stroke hospitalization due to COVID-19 is unrelated to COVID-19 intensity

      January 1, 2023

      Interviews

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

      Interviews

      Video Interview: Sleep-Wake Panel Co-Chair, Dr. Evelina Pajediene

      July 28, 2022

      Interviews

      Video: EAN supports World Brain Day

      July 19, 2022

      Interviews

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

      July 18, 2022

  • Academic/Scientific
    • All Breaking news Neurology updates Scientific committee reports Scientific panels reports Eur J Neurol Top 10 Articles Scientific Corner
      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

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

      January 17, 2023

      EAN News

      Impact of Burnout on Neurology Residents and Research Fellows in Europe

      December 23, 2022

      Breaking news

      COVID-19 Breaking News: Meta-analyses/systematic reviews – November 2022

      November 8, 2022

      Breaking news

      COVID-19 Breaking News: Cross-Sectional Case Control Studies – November 2022

      November 8, 2022

      Breaking news

      COVID-19 Breaking News: Miscellaneous – November 2022

      November 7, 2022

      Breaking news

      COVID-19 Breaking News: Observational Studies – Prospective Longitudinal Cohort – November 2022

      November 7, 2022

      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

      Scientific committee reports

      Scientific Committee Snapshot: Didier Leys

      April 1, 2020

      Scientific committee reports

      Scientific Committee Snapshot: Rigmor Hojland

      February 26, 2020

      Scientific committee reports

      Scientific Committee Snapshot: Christian Enzinger

      December 1, 2019

      Scientific committee reports

      Scientific Committee Snapshot: Maurizio Leone

      November 1, 2019

      Scientific panels reports

      Highlights from the World Muscle Society annual meeting, chosen by the Scientific Panel on Muscle and NMJ Disorders

      November 2, 2022

      Scientific panels reports

      Coma and DOC Panel Update (May-June): news from the EAN Virtual Congress, personalized pain assessment, NIRS-EEG and machine learning to predict outcomes, prevalence of swallowing disorders and new multimodal predictive algorithms.

      August 11, 2020

      Scientific panels reports

      Statement of the EAN Sleep-Wake-Panel

      June 3, 2020

      Scientific panels reports

      Rare Neurological Diseases in the COVID-19 era: Suggestions for information to patients and caregivers

      May 13, 2020

      Eur J Neurol

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

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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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