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      EAN Congress news

      EAN 2021 – Congress sessions recommended for undergraduate students

      April 14, 2021

      COVID-19

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Kenya)

      April 9, 2021

      Educational

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

      COVID-19

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      COVID-19

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Kenya)

      April 9, 2021

      COVID-19

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      COVID-19

      Impact of the COVID‐19 pandemic on stroke teleconsultations in Germany in the first half of 2020

      April 1, 2021

      COVID-19

      Impact of the COVID‐19 pandemic and a national lockdown on hospitalisation for stroke and related 30‐day mortality in France: a nationwide observational study

      April 1, 2021

      Executive Page

      Executive Page: Antonella Macerollo as Editor of EANpages

      April 1, 2021

      Executive Page

      Executive page: From Website editor to Co-Chair Communication Committee

      February 1, 2021

      Executive Page

      Severe COVID-19-related encephalitis can respond to immunotherapy

      January 5, 2021

      Executive Page

      Executive Page: Happy New Year 2021 from the EAN, the Home of Neurology

      January 4, 2021

      Country of the Month

      Country of the Month: Lithuania

      March 1, 2021

      Country of the Month

      Country of the Month: Albania

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      Country of the Month: The Netherlands

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      October 1, 2020

      Paper of the Month

      Paper of the month: Association Between Dispatch of Mobile Stroke Units and Functional Outcomes Among Patients With Acute Ischemic Stroke in Berlin

      April 1, 2021

      Paper of the Month

      COVID-19 Paper of the month: Prevalence and risk factors for delirium in critically ill patients with COVID-19 (COVID-D): a multicentre cohort study

      April 1, 2021

      Paper of the Month

      COVID-19 Paper of the month: A non-inflammatory mRNA vaccine for treatment of experimental autoimmune encephalomyelitis

      March 1, 2021

      Paper of the Month

      Research Paper of the month: Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)

      March 1, 2021

      EAN News

      International neurology groups unite to drive change for patients amid soaring figures

      April 1, 2021

      EAN News

      First Virtual EAN Regional Teaching Course in Moscow, Russia

      March 1, 2021

      EAN News

      European Academy of Neurology endorses the ALBA declaration on Equity and Inclusion

      January 25, 2021

      EAN News

      The First EAN Virtual Master Classes 2020 – Report

      January 1, 2021

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      EAN 2021 – Congress sessions recommended for undergraduate students

      April 14, 2021

      EAN Congress news

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

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      December 15, 2020

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      December 15, 2020

      Interviews

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Kenya)

      April 9, 2021

      Interviews

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Cape Verde)

      March 3, 2021

      Interviews

      Prof. Dafin Muresanu, Chair of the EAN Communication Committee interviews Prof. Raad Shakir, CBE

      March 1, 2021

      Interviews

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (South Africa)

      February 5, 2021

  • Academic/Scientific
    • All Scientific committee reports Scientific panels reports Breaking news Neurology updates Eur J Neurol Top 10 Articles Scientific Corner
      COVID-19

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      COVID-19

      Impact of the COVID‐19 pandemic on stroke teleconsultations in Germany in the first half of 2020

      April 1, 2021

      COVID-19

      Impact of the COVID‐19 pandemic and a national lockdown on hospitalisation for stroke and related 30‐day mortality in France: a nationwide observational study

      April 1, 2021

      COVID-19

      Outcomes and risk factors associated with SARS-CoV-2 infection in a north American registry of patients with multiple sclerosis

      April 1, 2021

      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

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      December 1, 2019

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      Scientific Committee Snapshot: Maurizio Leone

      November 1, 2019

      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

      Scientific panels reports

      Scentific Panel of the Month: Higher Cortical Functions

      March 2, 2020

      Breaking news

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      Breaking news

      Impact of the COVID‐19 pandemic on stroke teleconsultations in Germany in the first half of 2020

      April 1, 2021

      Breaking news

      Impact of the COVID‐19 pandemic and a national lockdown on hospitalisation for stroke and related 30‐day mortality in France: a nationwide observational study

      April 1, 2021

      Breaking news

      Outcomes and risk factors associated with SARS-CoV-2 infection in a north American registry of patients with multiple sclerosis

      April 1, 2021

      Neurology updates

      Neurology Update: Epilepsy

      March 19, 2021

      Neurology updates

      Neurology Update: Coordinating Panel on Rare Neurological Diseases

      March 12, 2021

      Neurology updates

      Neurology Update: Rare Diseases

      March 8, 2021

      Neurology updates

      Neurology Update: Dementia and Cognitive Disorders

      February 18, 2021

      Eur J Neurol

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

      November 13, 2020

      Eur J Neurol

      EAN consensus statement for management of patients with neurological diseases during the COVID‐19 pandemic

      October 22, 2020

      Eur J Neurol

      BREAKING NEWS: A systematic review of neurological manifestations of SARS‐CoV‐2 infection: the devil is hidden in the details

      June 30, 2020

      Eur J Neurol

      EUROPEAN JOURNAL OF NEUROLOGY: CONTRIBUTIONS FROM SPANISH AUTHORS

      November 4, 2019

      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

      The Future of Brain Research: EU-Initiatives and Experts Together for a Shared European Brain Research Agenda

      March 1, 2021

      Scientific Corner

      New Scales & Scores on Sleep-wake disorders

      January 21, 2021

      Scientific Corner

      Registrar’s Reading List: Epilepsy Panel

      November 2, 2020

      Scientific Corner

      Registrar’s Reading List: Dementia

      September 22, 2020

  • Educational
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      Educational

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

      Educational

      Clinical Fellowship Reports 2020

      April 1, 2021

      Educational

      Welcoming the new EAN eLearning Editors-in-Chief Prof. Barbara Tettenborn and Prof. Christian Müller

      April 1, 2021

      Educational

      Clinical Fellowship Reports 2020

      March 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

      E-Brain

      ebrain update: Changes in the ebrain team

      November 1, 2018

      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

      Continuing medical education

      CME online – June 2019 

      June 3, 2019

      Continuing medical education

      Continuing Medical Education

      February 21, 2019

      Continuing medical education

      CME online – October 2018

      October 1, 2018

      Continuing medical education

      CME online – July 2018

      July 24, 2018

      Resident and Research Fellows

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

      Resident and Research Fellows

      EAN Spring School 2020 – Virtual – Webcasts

      November 20, 2020

      Resident and Research Fellows

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

      November 13, 2020

      Resident and Research Fellows

      EAN VIRTUAL CONGRESS -Resident and Research Fellow Section General Assembly

      May 26, 2020

      Fellowship reports

      Clinical Fellowship Reports 2020

      April 1, 2021

      Fellowship reports

      Clinical Fellowship Reports 2020

      March 1, 2021

      Fellowship reports

      Clinical Fellowship Reports 2019

      March 1, 2021

      Fellowship reports

      Clinical Fellowship Reports III 2019

      February 1, 2021

      Education corner

      Welcoming the new EAN eLearning Editors-in-Chief Prof. Barbara Tettenborn and Prof. Christian Müller

      April 1, 2021

      Education corner

      First Virtual EAN Regional Teaching Course in Moscow, Russia

      March 1, 2021

      Education corner

      New Scales & Scores on Dementia

      February 11, 2021

      Education corner

      The First EAN Virtual Master Classes 2020 – Report

      January 1, 2021

  • Miscellanea
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      EAN 2021 – Congress sessions recommended for undergraduate students

      April 14, 2021

      General interest

      International neurology groups unite to drive change for patients amid soaring figures

      April 1, 2021

      EBC

      The European Brain Council launches Brain Innovation Policy Roadmap on the occasion of Brain Awareness Week

      April 1, 2021

      Miscellanea

      Alzheimer Europe outlines state-of-play of dementia policy in Europe

      March 31, 2021

      Holiday Calendar

      EAN Calendar 2020 – Template For Printing

      December 12, 2019

      Holiday Calendar

      24.12. The last day

      December 24, 2018

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      December 23, 2018

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      22.12. A chance to win…

      December 22, 2018

      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

      News from EMA: First oral treatment for spinal muscular atrophy (SMA) recommended for approval

      March 3, 2021

      News from EAN member societies

      EMA’s Webinar on ”COVID-19 vaccination – what you need to know as a health professional”

      February 5, 2021

      News from EAN member societies

      Personalized plans, blood biomarkers and early interventions: Think Brain Health conference highlights

      February 1, 2021

      News from EAN member societies

      New gene therapy to treat rare genetic disorder metachromatic leukodystrophy

      January 18, 2021

      EBC

      The European Brain Council launches Brain Innovation Policy Roadmap on the occasion of Brain Awareness Week

      April 1, 2021

      EBC

      EBC launches statement on the impact of COVID-19 on brain health

      February 1, 2021

      EBC

      EBC launches new series of disease fact sheets!

      December 1, 2020

      EBC

      Present Your Business or Idea at the Brain Innovation Days Pitch Competition

      October 27, 2020

      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

      EFNA

      EFNA Advocacy Awards 2021 – ‘Action Against Stigma’

      October 1, 2020

      News in general

      EAN 2021 – Congress sessions recommended for undergraduate students

      April 14, 2021

      News in general

      Alzheimer Europe outlines state-of-play of dementia policy in Europe

      March 31, 2021

      News in general

      EPA Forum 2021: Quality Indicators of Services and Care for Mental Health in Europe, from Clinician to Patient Perspective: A Paradigm Shift?

      March 31, 2021

      News in general

      ONE VOICE FOR NEUROLOGY

      March 31, 2021

      Topic of the Month/Week

      Brain Awareness Week (BAW) is the global campaign to increase public awareness of the progress and benefits of brain research

      March 13, 2018

      Topic of the Month/Week

      Dystonia Europe celebrates 25 years

      March 13, 2018

      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

      Driving with an intracranial tumor

      July 13, 2020

      Surveys

      SURVEY: Driving with an intracranial tumor

      June 25, 2020

      Surveys

      EAN SURVEY: Neurological Symptoms in COVID-19 Patients

      April 10, 2020

      Surveys

      EMA communication: ICH Good Clinical Practice Guidelines (ICH E6) – Open Comment Opportunity – Deadline: 1 November 2019

      October 7, 2019

      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

      Uncategorized

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Saudi Arabia)

      January 12, 2021

      Uncategorized

      Effect of pre-exposure use of hydroxychloroquine on COVID-19 mortality: a population-based cohort study in patients with rheumatoid arthritis or systemic lupus erythematosus using the OpenSAFELY platform

      December 2, 2020

      Uncategorized

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (New Zealand)

      November 24, 2020

      Uncategorized

      Report from the annual Pain Forum meeting

      November 2, 2020

  • EAN
  • Congress 2020
  • Congress 2021
  • EAN pages
  • Eur J Neurol
  • Virtual Congress

eanpages

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

      EAN 2021 – Congress sessions recommended for undergraduate students

      April 14, 2021

      COVID-19

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Kenya)

      April 9, 2021

      Educational

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

      COVID-19

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      COVID-19

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Kenya)

      April 9, 2021

      COVID-19

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      COVID-19

      Impact of the COVID‐19 pandemic on stroke teleconsultations in Germany in the first half of 2020

      April 1, 2021

      COVID-19

      Impact of the COVID‐19 pandemic and a national lockdown on hospitalisation for stroke and related 30‐day mortality in France: a nationwide observational study

      April 1, 2021

      Executive Page

      Executive Page: Antonella Macerollo as Editor of EANpages

      April 1, 2021

      Executive Page

      Executive page: From Website editor to Co-Chair Communication Committee

      February 1, 2021

      Executive Page

      Severe COVID-19-related encephalitis can respond to immunotherapy

      January 5, 2021

      Executive Page

      Executive Page: Happy New Year 2021 from the EAN, the Home of Neurology

      January 4, 2021

      Country of the Month

      Country of the Month: Lithuania

      March 1, 2021

      Country of the Month

      Country of the Month: Albania

      December 1, 2020

      Country of the Month

      Country of the Month: The Netherlands

      November 1, 2020

      Country of the Month

      Country of the Month: Serbia

      October 1, 2020

      Paper of the Month

      Paper of the month: Association Between Dispatch of Mobile Stroke Units and Functional Outcomes Among Patients With Acute Ischemic Stroke in Berlin

      April 1, 2021

      Paper of the Month

      COVID-19 Paper of the month: Prevalence and risk factors for delirium in critically ill patients with COVID-19 (COVID-D): a multicentre cohort study

      April 1, 2021

      Paper of the Month

      COVID-19 Paper of the month: A non-inflammatory mRNA vaccine for treatment of experimental autoimmune encephalomyelitis

      March 1, 2021

      Paper of the Month

      Research Paper of the month: Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)

      March 1, 2021

      EAN News

      International neurology groups unite to drive change for patients amid soaring figures

      April 1, 2021

      EAN News

      First Virtual EAN Regional Teaching Course in Moscow, Russia

      March 1, 2021

      EAN News

      European Academy of Neurology endorses the ALBA declaration on Equity and Inclusion

      January 25, 2021

      EAN News

      The First EAN Virtual Master Classes 2020 – Report

      January 1, 2021

      EAN Congress news

      EAN 2021 – Congress sessions recommended for undergraduate students

      April 14, 2021

      EAN Congress news

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

      EAN Congress news

      Congress Registration is open

      December 15, 2020

      EAN Congress news

      Abstract Submission is open

      December 15, 2020

      Interviews

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Kenya)

      April 9, 2021

      Interviews

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (Cape Verde)

      March 3, 2021

      Interviews

      Prof. Dafin Muresanu, Chair of the EAN Communication Committee interviews Prof. Raad Shakir, CBE

      March 1, 2021

      Interviews

      COVID-19 around the World: Clinician interviews on experience and impact of the virus (South Africa)

      February 5, 2021

  • Academic/Scientific
    • All Scientific committee reports Scientific panels reports Breaking news Neurology updates Eur J Neurol Top 10 Articles Scientific Corner
      COVID-19

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      COVID-19

      Impact of the COVID‐19 pandemic on stroke teleconsultations in Germany in the first half of 2020

      April 1, 2021

      COVID-19

      Impact of the COVID‐19 pandemic and a national lockdown on hospitalisation for stroke and related 30‐day mortality in France: a nationwide observational study

      April 1, 2021

      COVID-19

      Outcomes and risk factors associated with SARS-CoV-2 infection in a north American registry of patients with multiple sclerosis

      April 1, 2021

      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

      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

      Scientific panels reports

      Scentific Panel of the Month: Higher Cortical Functions

      March 2, 2020

      Breaking news

      The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

      April 6, 2021

      Breaking news

      Impact of the COVID‐19 pandemic on stroke teleconsultations in Germany in the first half of 2020

      April 1, 2021

      Breaking news

      Impact of the COVID‐19 pandemic and a national lockdown on hospitalisation for stroke and related 30‐day mortality in France: a nationwide observational study

      April 1, 2021

      Breaking news

      Outcomes and risk factors associated with SARS-CoV-2 infection in a north American registry of patients with multiple sclerosis

      April 1, 2021

      Neurology updates

      Neurology Update: Epilepsy

      March 19, 2021

      Neurology updates

      Neurology Update: Coordinating Panel on Rare Neurological Diseases

      March 12, 2021

      Neurology updates

      Neurology Update: Rare Diseases

      March 8, 2021

      Neurology updates

      Neurology Update: Dementia and Cognitive Disorders

      February 18, 2021

      Eur J Neurol

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

      November 13, 2020

      Eur J Neurol

      EAN consensus statement for management of patients with neurological diseases during the COVID‐19 pandemic

      October 22, 2020

      Eur J Neurol

      BREAKING NEWS: A systematic review of neurological manifestations of SARS‐CoV‐2 infection: the devil is hidden in the details

      June 30, 2020

      Eur J Neurol

      EUROPEAN JOURNAL OF NEUROLOGY: CONTRIBUTIONS FROM SPANISH AUTHORS

      November 4, 2019

      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

      The Future of Brain Research: EU-Initiatives and Experts Together for a Shared European Brain Research Agenda

      March 1, 2021

      Scientific Corner

      New Scales & Scores on Sleep-wake disorders

      January 21, 2021

      Scientific Corner

      Registrar’s Reading List: Epilepsy Panel

      November 2, 2020

      Scientific Corner

      Registrar’s Reading List: Dementia

      September 22, 2020

  • Educational
    • All E-Brain Grand Rounds Continuing medical education Resident and Research Fellows Fellowship reports Education corner
      Educational

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

      Educational

      Clinical Fellowship Reports 2020

      April 1, 2021

      Educational

      Welcoming the new EAN eLearning Editors-in-Chief Prof. Barbara Tettenborn and Prof. Christian Müller

      April 1, 2021

      Educational

      Clinical Fellowship Reports 2020

      March 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

      E-Brain

      ebrain update: Changes in the ebrain team

      November 1, 2018

      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

      Continuing medical education

      CME online – June 2019 

      June 3, 2019

      Continuing medical education

      Continuing Medical Education

      February 21, 2019

      Continuing medical education

      CME online – October 2018

      October 1, 2018

      Continuing medical education

      CME online – July 2018

      July 24, 2018

      Resident and Research Fellows

      RRFS special session in the upcoming virtual congress: Ph.D. and the Neurology residency: Why, when and how?”

      April 7, 2021

      Resident and Research Fellows

      EAN Spring School 2020 – Virtual – Webcasts

      November 20, 2020

      Resident and Research Fellows

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

      November 13, 2020

      Resident and Research Fellows

      EAN VIRTUAL CONGRESS -Resident and Research Fellow Section General Assembly

      May 26, 2020

      Fellowship reports

      Clinical Fellowship Reports 2020

      April 1, 2021

      Fellowship reports

      Clinical Fellowship Reports 2020

      March 1, 2021

      Fellowship reports

      Clinical Fellowship Reports 2019

      March 1, 2021

      Fellowship reports

      Clinical Fellowship Reports III 2019

      February 1, 2021

      Education corner

      Welcoming the new EAN eLearning Editors-in-Chief Prof. Barbara Tettenborn and Prof. Christian Müller

      April 1, 2021

      Education corner

      First Virtual EAN Regional Teaching Course in Moscow, Russia

      March 1, 2021

      Education corner

      New Scales & Scores on Dementia

      February 11, 2021

      Education corner

      The First EAN Virtual Master Classes 2020 – Report

      January 1, 2021

  • Miscellanea
    • All Holiday Calendar Grant opportunities News from EAN member societies EBC EFNA News in general Topic of the Month/Week Patients societies reports Surveys Forum Uncategorized
      EAN Congress news

      EAN 2021 – Congress sessions recommended for undergraduate students

      April 14, 2021

      General interest

      International neurology groups unite to drive change for patients amid soaring figures

      April 1, 2021

      EBC

      The European Brain Council launches Brain Innovation Policy Roadmap on the occasion of Brain Awareness Week

      April 1, 2021

      Miscellanea

      Alzheimer Europe outlines state-of-play of dementia policy in Europe

      March 31, 2021

      Holiday Calendar

      EAN Calendar 2020 – Template For Printing

      December 12, 2019

      Holiday Calendar

      24.12. The last day

      December 24, 2018

      Holiday Calendar

      23.12. Last-minute gift idea

      December 23, 2018

      Holiday Calendar

      22.12. A chance to win…

      December 22, 2018

      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

      News from EMA: First oral treatment for spinal muscular atrophy (SMA) recommended for approval

      March 3, 2021

      News from EAN member societies

      EMA’s Webinar on ”COVID-19 vaccination – what you need to know as a health professional”

      February 5, 2021

      News from EAN member societies

      Personalized plans, blood biomarkers and early interventions: Think Brain Health conference highlights

      February 1, 2021

      News from EAN member societies

      New gene therapy to treat rare genetic disorder metachromatic leukodystrophy

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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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