Amyotrophic Lateral Sclerosis

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Clinical Features

Top most frequent phenotypes and symptoms related to Amyotrophic Lateral Sclerosis

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Fatigue
  • Dysphagia
  • Depressivity

And another 37 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available AMYOTROPHIC LATERAL SCLEROSIS have a estimated incidence of 1.35 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Amyotrophic Lateral Sclerosis Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial.

Researches and researchers

Doctors, researchs, and experts related to Amyotrophic Lateral Sclerosis extracted from public data.

Amyotrophic Lateral Sclerosis Experts map



Current Researchs and researchers

  • LEUVEN — Pr Catherine VERFAILLIE

    Investigator of research project

    • Institution/s:
      — Department of Development and Regeneration, University Hospitals Leuven - Gasthuisberg
    • Research area/topic::

      Identification of defects in oligodendrocytes (OL) in familial and sporadic ALS and creation of an all human OL-neuron coculture system for screens of novel drugs that correct OL defects


  • LEUVEN — Pr Philip VAN DAMME

    Coordinator of expert centre - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Department of Neurology, University Hospitals Leuven - Gasthuisberg
    • Research area/topic::

      Translational research on the role of ephrin system in the pathogenesis of amyotrophic lateral sclerosis


  • LEUVEN — Pr Ludo VAN DEN BOSCH

    Investigator of research project

    • Institution/s:
      — Research Group Experimental Neurology (Neurology Department), University Hospitals Leuven - Gasthuisberg
    • Research area/topic::

      Preclinical testing of histone deacetylase 6 (HDAC6) inhibitors in a FUS mouse model of amyotrophic lateral sclerosis (ALS)


  • EDMONTON — Dr Sanjay KALRA

    Investigator of research project

    • Institution/s:
      — University of Alberta
    • Research area/topic::

      MRI biomarkers in ALS


  • EDMONTON — Dr Kelvin E JONES

    Investigator of research project

    • Institution/s:
      — University of Alberta
    • Research area/topic::

      Promoting protection of functionally intact motor units in amyotrophic lateral sclerosis (ALS).


  • MONTRÉAL — Dr Heather DURHAM

    Coordinator of research network

    • Institution/s:
      — McGill Department of Neurology, Montreal Neurological Institute and Hospital
    • Research area/topic::

      RNA-ALS: Dysregulation of RNA in the pathogenesis of ALS


  • MONTRÉAL — Dr Pierre DRAPEAU

    Investigator of research project

    • Institution/s:
      — Centre Hospitalier de l'Université de Montréal
    • Research area/topic::

      Synaptic targets for therapeutic protection of motor function in a genetic model of ALS


  • MONTRÉAL — Dr Stefano STIFANI

    Investigator of research project

    • Institution/s:
      — Montreal Neurological Institute and Hospital
    • Research area/topic::

      Regulation of motor neuron identity and circuit development


  • OTTAWA — Dr Johnny K NGSEE

    Investigator of research project

    • Institution/s:
      — Ottawa Hospital Research Institute
    • Research area/topic::

      Loss of VAPB Function in Amyotrophic Lateral Sclerosis-8 (ALS8)


  • TORONTO — Ms Jane MCKINLEY

    Coordinator of research network

    • Institution/s:
      — Sunnybrook Health Sciences Centre
    • Research area/topic::

      Canadian ALS Research Network (CALS)


  • TORONTO — Dr Janice ROBERTSON

    Investigator of research project

    • Institution/s:
      — University of Toronto
    • Research area/topic::

      The TAR DNA-Binding Protein (TDP-43) and Amyotrophic Lateral Sclerosis


  • VANCOUVER — Dr Steve S PLOTKIN

    Investigator of research project

    • Institution/s:
      — University of British Columbia
    • Research area/topic::

      Computation and theory to predict structures and mechanisms for protein misfolding in amyotrophic lateral sclerosis


  • WATERLOO — Pr Elizabeth M MEIERING

    Investigator of research project

    • Institution/s:
      — University of Waterloo
    • Research area/topic::

      Folding and aggregation of ALS-associated mutant superoxide dismutases


  • HELSINKI — Dr Merja VOUTILAINEN

    Investigator of research project

    • Institution/s:
      — Biocenter 1, University of Helsinki
    • Research area/topic::

      CDNF and MANF in genetic models of ALS


  • BORDEAUX — Ms Anne-Cécile WIELANEK-BACHELET

    Investigator of research project

    • Institution/s:
      — CHU - Hôpitaux de Bordeaux
    • Research area/topic::

      Study of the Expression of Micro-RNA as Biomarker Diagnosis and Prognosis in Amyotrophic Lateral Sclerosis- FR


  • BORDEAUX CEDEX — Pr Pascal BRANCHEREAU

    Investigator of research project

    • Institution/s:
      — Institut de Neurosciences cognitives et intégratives d'Aquitaine INCIA
    • Research area/topic::

      Bumetanide treatment of the early alteration of chloride homeostasis in ALS mouse spinal motoneurons


  • CLERMONT-FERRAND — Dr Corinne BOUTELOUP

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — CHU de Clermont-Ferrand - Hôpital d'Estaing
    • Research area/topic::

      Study of Mitochondrial Functions and Oxidative Stress in ALS Patients


  • DIJON — Mr David MONCHAUD

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculté des Sciences de Santé
    • Research area/topic::

      DEMENTIA : Exploiting genetic biomarkers of neurodegenerative diseases for developing early diagnostic tests and possible treatments - FR


  • GRENOBLE — Mr Vincent BONNETERRE

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Pôle Psychiatrie, Neurologie et Rééducation Neurologique, CHU de Grenoble site Nord - Hôpital Albert Michallon
    • Research area/topic::

      First study in France searching a link between Amyotrophic Lateral Sclerosis (ALS) and beta-N-methylamino-L-alanine (BMAA) cyanotoxin


  • GRENOBLE — Dr Emmeline LAGRANGE

    Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Pôle Psychiatrie, Neurologie et Rééducation Neurologique, CHU de Grenoble site Nord - Hôpital Albert Michallon
    • Research area/topic::

      First study in France searching a link between Amyotrophic Lateral Sclerosis (ALS) and beta-N-methylamino-L-alanine (BMAA) cyanotoxin


  • ILLKIRCH-GRAFFENSTADEN — Dr Nicolas CHARLET-BERGUERAND

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
    • Research area/topic::

      C9ORF72-ALS : Role of C9ORF72 in Amyotrophic Lateral Sclerosis - FR


  • LILLE — Dr David DEVOS

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Pôle Santé Publique, Pharmacie et Pharmacologie, CHRU de Lille
    • Research area/topic::

      GIFT-ALS: Growth factor preparations From plaTelets-Amyotrophic Lateral Sclerosis


  • LILLE — Dr Thierry PEREZ

    Investigator of research project

    • Institution/s:
      — Pôle Cardiovasculaire et Pulmonaire, CHRU de Lille - Hôpital Albert Calmette
    • Research area/topic::

      Potential role for nocturnal PtcCO2 monitoring in the close follow up of amyotrophic lateral sclerosis patients


  • LIMOGES — Pr Philippe COURATIER

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network

    • Institution/s:
      — EA3174, Faculté de médecine de Limoges
      — CHU de Limoges - Hôpital Dupuytren
      — CHU de Limoges - Hôpital Dupuytren
    • Research area/topic::

      BMAALS: First study in France seraching a link between Amyotrophic Lateral Sclerosis and BMAA's cyanotoxin


  • LIMOGES CEDEX — Dr Luna JAIME

    Investigator of research project

    • Institution/s:
      — Faculté des Sciences et Techniques
    • Research area/topic::

      Population-based study to compare ALS incidence, mortality rates and phenotype between European and Hispanic populations in relation to genetic ancestral origin


  • MARSEILLE — Dr Cédric RAOUL

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — INSERM UMR 901, Parc scientifique et technologiques de Luminy
      — CHU de Montpellier - Hôpital Saint-Eloi
    • Research area/topic::

      FaSMALS : Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases - FR


  • MARSEILLE — Ms Rebecca PRUSS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Parc scientifique et technologiques de Luminy
    • Research area/topic::

      MITOTARGET: mitochondrial dysfunction in neurodegenerative diseases: towards new therapeutics


  • MARSEILLE — Dr Brigitte PETTMANN

    Investigator of research project

    • Institution/s:
      — UMR6216 - CNRS - université de la Méditerranée, Parc scientifique et technologiques de Luminy
    • Research area/topic::

      MITOTARGET: mitochondrial apoptotic pathways in neurodegenerative diseases and assessment of the effects of new small molecules (WP4)


  • MARSEILLE — Mr Julien VEYS

    Investigator of research project

    • Institution/s:
      — Parc scientifique et technologiques de Luminy
    • Research area/topic::

      MITOTARGET: dysfonction mitochondriale dans les maladies neurodégénératives: vers de nouvelles thérapies (coordination)


  • MONTPELLIER — Dr Cédric RAOUL

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — INSERM UMR 901, Parc scientifique et technologiques de Luminy
      — CHU de Montpellier - Hôpital Saint-Eloi
    • Research area/topic::

      FaSMALS : Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases - FR


  • MONTPELLIER — Pr William CAMU

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Département de Neurologie, CHRU de Montpellier - Hôpital Gui de Chauliac
      — Département Neurologie, CHRU de Montpellier - Hôpital Gui de Chauliac
    • Research area/topic::

      ALS in Herault: epidemiology ans exposure into and outside the thau cluster


  • MONTPELLIER — Pr Florence PERRIN

    Investigator of research project

    • Institution/s:
      — CHU de Montpellier - Hôpital Saint-Eloi
    • Research area/topic::

      From knowledge base of the pathogenic astrocyte-motoneuron communication in amyotrophic lateral sclerosis to therapeutic approaches


  • ORLÉANS — Dr Helène BENEDETTI

    Investigator of research project

    • Institution/s:
      — UPR4301 Centre de biophysique moléculaire (CBM)
    • Research area/topic::

      Evaluation of new inhibitors of LIMK1 and LIMK2, kinases of the Rho-GTPase pathway, in a mouse model of amyotrophic lateral sclerosis


  • PARIS — Pr Alexandra DURR

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Centre de génétique moléculaire et chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Service de Génétique clinique et Médicale, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      The issue of prenatal / preimplantation diagnosis in parentage information in neurogenetic and neuromuscular dominant diseases


  • PARIS — Dr Vincent EL GHOUZZI

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Unité INSERM U 1141 - Neuroprotection du cerveau en développement, CHU Paris - Hôpital Robert Debré
    • Research area/topic::

      MitoMotor: CHCHD10 mutations: how mitochondrial dysfunction leads to motor neuron disease


  • PARIS — Dr Pierre François PRADAT

    Clinical expert - Investigator of research project

    • Institution/s:
      — CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Département de Neurologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      From Movement Preparation to Gait Execution in ALS: : Combined Neurophysiological and Neuroimaging Approaches - FR


  • PARIS — Dr GAELLE BRUNETEAU

    Investigator of research project

    • Institution/s:
      — Département de Neurologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Presymptomatic neuromuscular junction defects and compensatory mechanisms in ALS


  • PARIS — Dr Chiara ZURZOLO

    Investigator of research project

    • Institution/s:
      — Azienda Ospedaliera Universitaria "Federico II"
      — Département de Biologie cellulaire et infection, Institut Pasteur
    • Research area/topic::

      Role of TDP-43 in ALS pathogenesis: understanding TDP-43 aggregates neurotoxicity and the role of tunneling nanotubes in their spreading


  • PARIS — Dr Martine BARKATS

    Investigator of research project

    • Institution/s:
      — Institut de Myologie - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      New gene therapy for C9ORF72-linked ALS-FTD


  • PARIS — Dr Christian LOBSIGER

    Investigator of research project

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Peripheral macrophages as a promising target to modulate ALS disease progression


  • PARIS — Dr Stephanie MILLECAMPS

    Investigator of research project

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Gene hunting in familial Amyotrophic Lateral Sclerosis


  • PARIS — Dr François SALACHAS

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Département de Neurologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Project SOPHIA: Sampling and biomarker OPtimization and Harmonization In ALS and other motor neuron diseases - FR


  • PARIS — Dr Séverine BOILLEE

    Investigator of research project

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Study of the interactions between microglial cells, macrophages and neurons from three axes in an animal model of amyotrophic lateral sclerosis


  • PARIS — Ms Aude CHIOT

    Investigator of research project

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Implication of peripheral macrophages in ALS


  • PARIS — Dr Eric LE GUERN

    Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Centre de génétique moléculaire et chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
      — Centre de Génétique Moléculaire et Chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Localisation and identification of causative genes for amyotrohic lateral sclerosis


  • PARIS — Ms Hortense DE CALBIAC

    Investigator of research project

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Study of the pathological consequences of the loss of function of the C9ORF72 gene and its implication in autophagy


  • PARIS — Dr Isabelle LE BER

    Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
      — Centre des maladies cognitives et comportementales, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Predict to prevent frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS)


  • PARIS — Dr Daniel ZYTNICKI

    Investigator of research project

    • Institution/s:
      — Université Paris Descartes - Paris 5
    • Research area/topic::

      Can a spinal interneuropathy contribute to motoneuron degeneration in ALS? An electrophysiological study on patients and mouse models of ALS


  • POISSY — Pr François VIALARD

    Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Histologie embryologie, biologie de la reproduction, cytogénétique et génétique médicale, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
      — Service histo-embryologie, cytogénétique, génétique médicale et biologie de la reproduction, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
    • Research area/topic::

      Identification and characterization of gene mutations in patients with azoospermia by maturation


  • STRASBOURG — Dr Luc DUPUIS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Université de Strasbourg, Faculté de médecine de Strasbourg - Louis Pasteur
    • Research area/topic::

      ToFU: Interactions between TAU, FUS and TDP-43 in neurodegenerative diseases - FR


  • STRASBOURG — Dr Jean-Philippe LOEFFLER

    Investigator of research project

    • Institution/s:
      — INSERM U 692, Faculté de médecine de Strasbourg - Louis Pasteur
    • Research area/topic::

      Involvement of metabolic dysfunctions in the pathogenesis of amyotrophic lateral sclerosis


  • TOURS — Pr Patrick VOURC'H

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — CHRU de Tours - Hôpital Bretonneau
    • Research area/topic::

      SUMOylation and aggregation of TDP43: roles in the pathophysiology of amyotrophic lateral sclerosis


  • VANDOEUVRE LES NANCY CEDEX — Dr Séverine MASSENET

    Investigator of research project

    • Institution/s:
      — Institut des sciences de l'ingénierie et des systèmes
    • Research area/topic::

      Study of the functions of SMS and TDP-43, whose defectslead to Spinal Muscular Atrophy and Amyotrophic Lateral Sclérosis respectively, in the biogenesis of the small Cajal body-specific and small nucleolar RNPs


  • 34091 — Dr Frédérique SCAMPS

    Investigator of research project

    • Institution/s:
      — Institut des Neurosciences de Montpellier
    • Research area/topic::

      In vitro analysis of the neuromuscular junction in amyotrophic lateral sclerosis. Role of anoctamine 6


  • 34095 — Dr Jean-Charles LIEVENS

    Investigator of research project

    • Institution/s:
      — Mécanismes moléculaires dans les démences neurodégénératives (MMDN)
    • Research area/topic::

      thwart TDP-43-induced mitochondrial defects in amyotrophic lateral sclerosis


  • 37032 — Dr Helène BLASCO

    Investigator of research project

    • Institution/s:
      — Université de Tours
    • Research area/topic::

      New therapeutic strategy in ALS based on metabolic status and associated metabolic disorders


  • 75270 — Dr MANUEL MARIN

    Investigator of research project

    • Institution/s:
      — Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119
    • Research area/topic::

      Is spinal motoneuron degeneration in ALS caused by their abnormal excitability?


  • — Institution: Information not provided - DE



    • Institution/s:
      — Institution: Information not provided - DE
    • Research area/topic::

      MAIV: Investigation of time-dependent axon/muscle contacts and formation of mature neuromuscular end plates between human motor neurons


  • AACHEN — Pr Jörg B. SCHULZ

    Principal investigator of clinical trial - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of department

    • Institution/s:
      — Universitätsklinikum Aachen
      — Klinik für Neurologie, Universitätsklinikum Aachen
      — Fakultät für Mathematik, Informatik und Naturwissenschaften, RWTH Aachen
    • Research area/topic::

      JPND - Fly-SMALS: Common RNA-dependent pathways for motor neuron degeneration in spinocerebellar muscular atrophy and amyotrophic lateral sclerosis (coordination)


  • BONN — Dr Patrick WEYDT

    Investigator of research project

    • Institution/s:
      — Universitätsklinikum Bonn
    • Research area/topic::

      Role of PGC-1A in the evolution of amyotrophic lateral sclerosis and effects of its regulation


  • DRESDEN — Dr Simon ALBERTI

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Max Planck Institute of Molecular Cell Biology and Genetics
    • Research area/topic::

      CureALS: Stress granules and proteostasis in motor neurons: towards a mechanistic understanding of ALS (coordination)


  • ESSEN — Dr Tim HAGENACKER

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Essen
      — Universitätsklinikum Essen
    • Research area/topic::

      Nutrition and Quality of Life in Amyotrophic Lateral Sclerosis


  • FRANKFURT AM MAIN — Dr Walter E MULLER

    Investigator of research project

    • Institution/s:
      — Johann Wolfgang Goethe-Universität Frankfurt
    • Research area/topic::

      MITOTARGET: mitochondrial membrane properties in the process of neurodegeneration and assessment of the effects of new small molecules (WP2)


  • GÖTTINGEN — Pr Paul LINGOR

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsmedizin Göttingen
      — Universitätsmedizin Göttingen
    • Research area/topic::

      ROCK-ALS : Inhibition of Rho Kinase (ROCK) with Fasudil as disease-modifying treatment for ALS -DE-


  • MÜNSTER — Dr Erik STORKEBAUM

    Investigator of research project

    • Institution/s:
      — Max-Planck-Institut für Molekulare Biomedizin, Max-Planck-Gesellschaft
    • Research area/topic::

      REALS: Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis -DE-


  • TÜBINGEN — Pr Philipp J KAHLE

    Investigator of research project - Director of laboratory

    • Institution/s:
      — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
    • Research area/topic::

      Cell Biology of the FTD/ALS Associated Nuclear Splice Factor TDP-43


  • TÜBINGEN — Pr Olaf RIESS

    Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Contact person of registry - Manager of biobank/collection - Contact person of biobank/collection - Coordinator of research network - Director of

    • Institution/s:
      — Institut für Medizinische Genetik und angewandte Genomik Tübingen
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
    • Research area/topic::

      MITOTARGET: in vivo evidence of mitochondrial-targeted therapeutics (WP5)


  • ULM — Pr Albert Christian LUDOLPH

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Universitäts- und Rehabilitationskliniken Ulm (RKU)
      — Zentrum für Seltene Erkrankungen am Universitätsklinikum Ulm
    • Research area/topic::

      Epidemiology of motoneuron diseases - A case-control study


  • ULM — Pr Jochen H. WEISHAUPT

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitäts- und Rehabilitationskliniken Ulm (RKU)
      — Zentrum für Seltene Erkrankungen am Universitätsklinikum Ulm
    • Research area/topic::

      MULTIMONO : A multicentric approach to monocyte alterations in ALS


  • ULM — Pr Markus OTTO

    Clinical expert - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Universitäts- und Rehabilitationskliniken Ulm (RKU)
      — Zentrum für Seltene Erkrankungen am Universitätsklinikum Ulm
    • Research area/topic::

      Aggregated-TDP43: Detection of disease specific aggregates of TDP-43 in cerebrospinal fluid of ALS patients for disease specific diagnosis


  • DUBLIN — Pr Orla HARDIMAN

    Coordinator of expert centre - Clinical expert - Investigator of clinical trial - Investigator of research project - Researcher

    • Institution/s:
      — Neurology Department, Beaumont Hospital
      — Trinity College Dublin
      — Trinity College Dublin
    • Research area/topic::

      Behavioral Changes in ALS: What Families and Health Care Professionals need to know


  • REHOVOT — Dr Eran HORNSTEIN

    Coordinator of research network

    • Institution/s:
      — Arnold R. Meyer Institute of Biological Sciences, Weizmann Institute of Science
    • Research area/topic::

      REALS: Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis


  • TEL AVIV — Dr Eran PERLSON

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Sackler Faculty of Medicine, University of Tel-Aviv
    • Research area/topic::

      ALS-degeneration: The molecular basis for neurodegeneration and muscle atrophy in ALS - IL


  • BARI — Pr Maria BARILE

    Investigator of research project

    • Institution/s:
      — Dipartimento di Bioscienze Biotecnologie e Scienze Farmacologiche, Università degli Studi di Bari Aldo Moro
    • Research area/topic::

      Amyotrophic lateral sclerosis (SLA) and riboflavin responsive multiple Acyl-CoA dehydrogenase deficiency (RR-MADD)


  • MILANO — Dr Stefania CORTI

    Clinical expert - Investigator of research project

    • Institution/s:
      — Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
      — Dipartimento di Neuroscienze e Salute Mentale, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
    • Research area/topic::

      Modulating motor neuron vulnerability using the oculomotor restricted genes IGF-2 and SYT13 for ALS therapy


  • MILANO — Dr Caterina BENDOTTI

    Investigator of research project

    • Institution/s:
      — Dipartimento di Neuroscienze, Istituto di Ricerche Farmacologiche "Mario Negri"
    • Research area/topic::

      Preclinical studies aimed to develop target genes based therapies for the treatment of amyotrophic lateral sclerosis


  • MILANO — Dr Valentina BONETTO

    Investigator of research project

    • Institution/s:
      — Istituto di Ricerche Farmacologiche "Mario Negri"
    • Research area/topic::

      Novel biomarkers of amyotrophic lateral sclerosis: role in pathogenesis and possible therapeutic targets


  • NAPOLI — Dr Chiara ZURZOLO

    Investigator of research project

    • Institution/s:
      — Azienda Ospedaliera Universitaria "Federico II"
      — Département de Biologie cellulaire et infection, Institut Pasteur
    • Research area/topic::

      Role of TDP-43 in ALS pathogenesis: understanding TDP-43 aggregates neurotoxicity and the role of tunneling nanotubes in their spreading


  • PALERMO — Dr Patrizia GUARNERI

    Investigator of research project

    • Institution/s:
      — Istituto di Biomedicina e Immunologia Molecolare, Consiglio Nazionale delle Ricerche
    • Research area/topic::

      Biological and genetic variables in the pathogenesis and clinical progression of amyotrophic lateral sclerosis: identification of biomarkers


  • PAVIA — Dr Daniela Maria M. ROSSI

    Investigator of research project

    • Institution/s:
      — Centro di Medicina Molecolare, Fondazione Salvatore Maugeri
    • Research area/topic::

      Novel therapeutic strategies for Spinal Muscular Atrophy: testing the efficacy of cell-permeable peptides in preclinical models


  • ROMA — Pr Maria Teresa CARRI

    Investigator of research project

    • Institution/s:
      — Centro Europeo di Ricerca sul Cervello
    • Research area/topic::

      Study of the function of mitochondria in mouse models of familial amyotrophic lateral sclerosis associated with the mutations in the SOD1 gene through genetic manipulation of the P66SHC molecular pathway


  • ROMA — Dr Alberto LOIZZO

    Investigator of research project

    • Institution/s:
      — Centro Nazionale Malattie Rare, ISS - Istituto Superiore di Sanità
    • Research area/topic::

      Proposal for an integrated approach to rare diseases: a study between basic laboratory models and clinical epidemiology in amyotrophic lateral sclerosis (ALS)


  • TORINO — Pr Adriano CHIO'

    Coordinator of expert centre - Investigator of research project

    • Institution/s:
      — Dipartimento di Neuroscienze - S.C. Neurologia 4, Ospedale Molinette
    • Research area/topic::

      Evaluation of disease onset and disease stage/severity in patients with amyotrophic lateral sclerosis using FDG-PET imaging (INSPIRED) - IT


  • UTRECHT — Dr J.H. [Jan] VELDINK

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Rudolf Magnus Institute Stratenum
    • Research area/topic::

      PYRAMID: Phenotype Research for ALS modifyer discovery


  • UTRECHT — Pr L.H. [Leonard] VAN DEN BERG

    Clinical expert - Principal investigator of clinical trial - Investigator of clinical trial - Manager of registry - Coordinator of expert centre network - Coordinator of research network

    • Institution/s:
      — Divisie Hersenen, UMC Utrecht - Universitair Medisch Centrum Utrecht
      — UMC Utrecht - Universitair Medisch Centrum Utrecht
      — UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Research area/topic::

      Project SOPHIA: Sampling and biomarker OPtimization and Harmonization In ALS and other motor neuron diseases


  • LISBOA — Mr Joaquim RIBEIRO

    Investigator of research project

    • Institution/s:
      — Instituto de Medicina Molecular - Faculdade de Medicina da Universidade de Lisboa, Faculdade de Medicina da Universidade de Lisboa
    • Research area/topic::

      Crosstalk between neurotrophic factor receptors (TrkB) and adenosine A2A receptors: implications for Amyotrophic Lateral Sclerosis (ALS).


  • LISBOA — Pr Mamede DE CARVALHO

    Clinical expert - Principal investigator of clinical trial - Investigator of research project - Director of laboratory

    • Institution/s:
      — Departamento de Neurociências, Hospital de Sta. Maria - Centro Hospitalar de Lisboa Norte, EPE.
      — Instituto de Medicina Molecular - Faculdade de Medicina da Universidade de Lisboa, Faculdade de Medicina da Universidade de Lisboa
      — Serviço de Neurologia, Hospital de Sta. Maria - Centro Hospitalar de Lisboa Norte, EPE.
    • Research area/topic::

      Respiratory Rehabilitation in Amyotrophic Lateral Sclerosis: clinical and biochemical impact.


  • OEIRAS — Pr Cláudio M GOMES

    Investigator of research project - Director of laboratory

    • Institution/s:
      — Instituto de Tecnologia Química e Biológica da Universidade Nova de Lisboa, Instituto de Tecnologia Química e Biológica
    • Research area/topic::

      Mechanisms of SOD1 toxic aggregation in neurodegenerative processes


  • BARCELONA — Dr Ricard ROJAS GARCÍA

    Clinical expert - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Hospital de la Santa Creu i Sant Pau
    • Research area/topic::

      Identification of diagnostic biomarkers for amyotrophic lateral esclerosis


  • MADRID — Dr Jose Luis URCELAY SEGURA

    Investigator of research project

    • Institution/s:
      — Hospital General Universitario Gregorio Marañón
    • Research area/topic::

      Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia - ES


  • MADRID — Pr Javier FERNÁNDEZ RUIZ

    Investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Dpto. Bioquímica y Biología Molecular, Universidad Complutense de Madrid. Facultad de Medicina
    • Research area/topic::

      Potential of cannabinoids as neuroprotective agents in neurodegenerative disorders: Huntington disease, amyotrophic lateral sclerosis and spinocerebellar ataxia, types 2 and 3


  • MADRID — Pr José Antonio RAMOS ATANCE

    Investigator of research project

    • Institution/s:
      — Dpto. Bioquímica y Biología Molecular, Universidad Complutense de Madrid. Facultad de Medicina
    • Research area/topic::

      Potential of cannabinoids as neuroprotective agents in neurodegenerative disorders: Huntington disease, amyotrophic lateral sclerosis and spinocerebellar ataxia, types 2 and 3


  • STOCKHOLM — Pr Mikael OLIVEBERG

    Investigator of research project

    • Institution/s:
      — Stockholm University
    • Research area/topic::

      In vitro molecular mechanism of amyotrophic lateral sclerosis


  • UMEÅ — Dr Thomas BRÄNNSTRÖM

    Investigator of research project

    • Institution/s:
      — Umeå University
    • Research area/topic::

      Disease mechanisms in amyotrophic lateral sclerosis and frontotemporal lobar degeneration


  • UMEÅ — Pr Stefan MARKLUND

    Investigator of research project

    • Institution/s:
      — Umeå University
    • Research area/topic::

      Studies of misfolded SOD1 in amyotrophic lateral sclerosis (ALS)


  • UMEÅ — Pr Fatima PEDROSA DOMELLÖF

    Investigator of research project

    • Institution/s:
      — University Hospital of Umeå
    • Research area/topic::

      Molecular portfolio of the extraocular muscles: clues to protection in muscular disease


  • UMEÅ — Pr Peter ANDERSEN

    Investigator of research project

    • Institution/s:
      — University Hospital of Umeå
    • Research area/topic::

      Genetic factors causing sporadic and familial amyotrophic lateral sclerosis (ALS/MND) with or without dementia


  • GENÈVE — Pr Karl-Heinz KRAUSE

    Coordinator of research network

    • Institution/s:
      — Département de Pathologie et Immunologie, Centre Médical Universitaire - CMU
    • Research area/topic::

      NEURINOX: NOX enzymes as mediators of inflammation-triggered neurodegeneration: modulating NOX enzymes as novel therapies


  • BRIGHTON — Pr Keith CALDECOTT

    Investigator of research project

    • Institution/s:
      — University of Sussex
    • Research area/topic::

      Amyotrophic Lateral Sclerosis and the DNA Damage Response


  • CAMBRIDGE — Pr James FAWCETT

    Coordinator of research network

    • Institution/s:
      — University of Cambridge, John van Geest Centre for Brain Repair
    • Research area/topic::

      EUNEURONE: European Consortium for Research in Neurodegenerative Diseases


  • EDINBURGH — Dr Arpan R MEHTA

    Investigator of research project

    • Institution/s:
      — University of Edinburgh
    • Research area/topic::

      Cellular and molecular insights into neurodegeneration mediated by the C9orf72 gene mutation amyotrophic lateral sclerosis


  • HEADINGTON — Mr David GORDON

    Investigator of research project

    • Institution/s:
      — Medical science division, University of Oxford, John Radcliffe Hospital, University of Oxford
    • Research area/topic::

      The contribution of cell autonomous and non-cell autonomous effects of mutant TDP-43 to disease onset and progression in a novel transgenic mouse model of ALS


  • HEADINGTON — Dr Kevin TALBOT

    Investigator of research project

    • Institution/s:
      — Medical science division, University of Oxford, John Radcliffe Hospital, University of Oxford
      — Department of Physiology Anatomy & Genetics, Le Gros Clark Building - University of Oxford
      — Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford
    • Research area/topic::

      Identifying effectors of mutant C9Orf72 ALS/FTD to combat neurodegeneration


  • LONDON — Pr Chris SHAW

    Investigator of research project

    • Institution/s:
      — National Hospital for Neurology and Neurosurgery
      — The James Black Centre, The Institute of Psychiatry, King's College London School of Medicine
    • Research area/topic::

      Development of a diagnostic test for familial amyotrophic lateral sclerosis type 6 through mutation screening in FUS gene


  • LONDON — Dr Ivo LIEBERAM

    Investigator of research project

    • Institution/s:
      — Division of Genetics and Molecular Medicine, Kings College School of Medicine
    • Research area/topic::

      Modelling peripheral axonal pathology of ALS in vitro - Assembly of optogenetic neuromuscular circuits from pluripotent stem cells


  • LONDON — Pr Elisabeth FISCHER

    Investigator of research project

    • Institution/s:
      — The National Hospital For Neurology and Neurosurgery
    • Research area/topic::

      Study the role of TDP43, a new gene mutation identified recently for amyotrophic lateral sclerosis in motor neurons


  • LONDON — Pr Elizabeth FISHER

    Investigator of research project

    • Institution/s:
      — The National Hospital For Neurology and Neurosurgery
      — Institution: Information not provided - UK
      — UCL Institute of Neurology, University College London,
    • Research area/topic::

      Novel and bespoke mouse models for dissecting neurodegenerative disease


  • LONDON — Dr Pietro FRATTA

    Investigator of research project

    • Institution/s:
      — UCL Institute of Neurology, University College London,
      — Faculty of Medical Sciences Newcastle University
    • Research area/topic::

      Investigating deficits of axonal RNA metabolism and axonal signalling in amyotrophic lateral sclerosis


  • LONDON — Mr Marco BEATO

    Investigator of research project

    • Institution/s:
      — UCL Institute of Neurology, University College London,
    • Research area/topic::

      Beyond the neuromuscular junction: dysfunction of spinal synaptic targets of motoneurons in Amyotrophic Lateral Sclerosis


  • NEWCASTLE-UPON-TYNE — Dr Pietro FRATTA

    Investigator of research project

    • Institution/s:
      — UCL Institute of Neurology, University College London,
      — Faculty of Medical Sciences Newcastle University
    • Research area/topic::

      Investigating deficits of axonal RNA metabolism and axonal signalling in amyotrophic lateral sclerosis


  • NYI UK — Pr Elizabeth FISHER

    Investigator of research project

    • Institution/s:
      — The National Hospital For Neurology and Neurosurgery
      — Institution: Information not provided - UK
      — UCL Institute of Neurology, University College London,
    • Research area/topic::

      Novel and bespoke mouse models for dissecting neurodegenerative disease


  • OXFORD — Dr Kevin TALBOT

    Investigator of research project

    • Institution/s:
      — Medical science division, University of Oxford, John Radcliffe Hospital, University of Oxford
      — Department of Physiology Anatomy & Genetics, Le Gros Clark Building - University of Oxford
      — Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford
    • Research area/topic::

      Identifying effectors of mutant C9Orf72 ALS/FTD to combat neurodegeneration


  • OXFORD — Pr Martin TURNER

    Investigator of research project

    • Institution/s:
      — Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford
    • Research area/topic::

      Developing The Oxford Study for Biomarkers in Motor Neuron Disease (BioMOx): Capturing pre-symptomatic events and advancing clinical translation


  • OXFORD — Dr Jakub SCABER

    Investigator of research project

    • Institution/s:
      — Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford
    • Research area/topic::

      The pathophysiological role of TDP43 in amyotrophic lateral sclerosis due to C9orf72 mutations


  • OXFORD — Pr Matthew J WOOD

    Investigator of research project

    • Institution/s:
      — Department of Physiology, Anatomy and Genetics, Le Gros Clark Building - University of Oxford
      — University of Oxford
    • Research area/topic::

      Antisense Oligonucleotide Therapy for Neuromuscular Disease


  • SHEFFIELD — Dr Kurt DE VOS

    Investigator of research project

    • Institution/s:
      — Sheffield Institute of Translational Neuroscience, University of Sheffield
    • Research area/topic::

      The role of Miro and PKC signalling in axonal transport defects in amyotrophic lateral sclerosis.


  • SHEFFIELD — Dr Andrew GRIERSON

    Investigator of research project

    • Institution/s:
      — Sheffield Institute of Translational Neuroscience, University of Sheffield
    • Research area/topic::

      MITOTARGET: mitochondrial dynamics in neurodegenerative diseases and assessment of the effects of new small molecules (WP1)


  • SHEFFIELD — Dr Ke NING

    Investigator of research project

    • Institution/s:
      — Sheffield Institute of Translational Neuroscience, University of Sheffield
    • Research area/topic::

      Investigating mechanistic causes of C9ORF72-related amyotrophic lateral sclerosis (ALS).


  • SHEFFIELD — Ms Laura FERRAIUOLO

    Investigator of research project

    • Institution/s:
      — Sheffield Institute of Translational Neuroscience, University of Sheffield
    • Research area/topic::

      Investigating the role of exosomal RNA in C9orf72 astrocyte toxicity - moving towards gene therapy approaches


  • SHEFFIELD — Pr Pamela J SHAW

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — University of Sheffield, E Floor Medical School, The Medical School - University of Sheffield
    • Research area/topic::

      MITOTARGET: mitochondrial metabolic function and oxidative stress in neurodegenerative diseases and assessment of the effects of new small molecules (WP3)


  • BOSTON — Pr Neil R CASHMAN

    Investigator of research project

    • Institution/s:
      — Children's Hospital Boston, Boston Children's Hospital
    • Research area/topic::

      Misfolding of Cu/Zn superoxide dismutase by pathological FUS and TDP43: relevance to amyotrophic lateral sclerosis



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Amyotrophic Lateral Sclerosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
14 %
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
12 %
Genes
6 %
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
83 %
Genes
39 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
80 %
Genes
34 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
6 %
Genes
9 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
4 %
Genes
14 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)

View the complete list with 1 more genes
Specificity
72 %
Genes
42 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
3 %
Genes
6 %

We have 615 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III; CDG3 GLYCOGEN STORAGE DISEASE III; GSD3 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D HUNTINGTON DISEASE-LIKE 2; HDL2 ACTH DEFICIENCY, ISOLATED; IAD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more