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April 2017; 3 (2) Views & ReviewsOpen Access

Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy

Rahul Lakshmanan, Matthew E. Adams, David S. Lynch, Justin A. Kinsella, Rahul Phadke, Jonathan M. Schott, Elaine Murphy, Jonathan D. Rohrer, Jeremy Chataway, Henry Houlden, Nick C. Fox, Indran Davagnanam
First published February 15, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000135
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Article Information

vol. 3 no. 2 e135
DOI: 
https://doi.org/10.1212/NXG.0000000000000135
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received October 5, 2016
  • Accepted in final form January 4, 2017
  • First Published February 15, 2017.
Copyright & Usage: 
Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Author Disclosures

    1. Rahul Lakshmanan, FRANZCR,
    2. Matthew E. Adams, FRCR,
    3. David S. Lynch, MRCPI,
    4. Justin A. Kinsella, MRCPI,
    5. Rahul Phadke, FRCPath,
    6. Jonathan M. Schott, FRCP,
    7. Elaine Murphy, MRCP,
    8. Jonathan D. Rohrer, MRCP,
    9. Jeremy Chataway, FRCP,
    10. Henry Houlden, FRCP,
    11. Nick C. Fox, FRCP and
    12. Indran Davagnanam, FRCR
  1. Rahul Lakshmanan, FRANZCR,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Matthew E. Adams, FRCR,
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  3. David S. Lynch, MRCPI,
    4. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Justin A. Kinsella, MRCPI,
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Funding from Novartis for attendance at the American Academy of Neurology Meeting 2016

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. Dr. Kinsella was previously funded by the Stanley Thomas Johnson Foundation, Bayer Schering Ireland, Pfizer Ireland and Elitech UK.

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  5. Rahul Phadke, FRCPath,
    6. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  6. Jonathan M. Schott, FRCP,
    7. Scientific Advisory Boards:

    1. Scientific advisory board for Eli Lilly and Roche Data Safety Monitoring Board for Axon Neuroscience

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Travel and speaker honoraria from (1) the US Alzheimer's Association; (2) European Academy of Neurology; (3) Association of British Neurologists

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. The Clinical Syndrome of Alzheimer's disease, Henry Stewart Talks, 2016

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Elil Lilly, (2) Roche

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. I have received funding for research studies from Eli Lilly

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. (1) Alzheimer's Research UK, (2) UK Alzheimer's Society, (3) EPSRC, (4) Medical Research Council, (5) EU, Horizon 20:20, (6) Wolfson Foundation, (7) Wellcome Trust, (8) Brain Research Trust

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  7. Elaine Murphy, MRCP,
    8. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. 1) Vitaflo International, Honorarium for lecture 2) Shire HGT, unrestricted educational grant 3) Genzyme Inc., Unrestricted educational grant 4) Nutricia, Honaria for lectures

    Editorial Boards:

    1. Orphanet Journal of Rare Disease https://ojrd.biomedcentral.com/ Section Editor

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1) Shire HGT, unrestricted educational grant 2) Genzyme Inc., Unrestricted educational grant 3) Nutricia, educational grant

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  8. Jonathan D. Rohrer, MRCP,
    9. Scientific Advisory Boards:

    1. Medical advisory board for Ionis Pharmaceuticals.

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. MRC Clinician Scientist Fellowship, MR/M008525/1.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  9. Jeremy Chataway, FRCP,
    10. Scientific Advisory Boards:

    1. 1)Roche Merck

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1)Novartis

    Research Support, Government Entities:

    1. 1)MRC-EME, 11/30/11, CI, 2013-2018

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  10. Henry Houlden, FRCP,
    11. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. My laboratory is funded by: The Medical Research Council (MRC) UK, The BRT, The MDA USA, Muscular Dystrophy UK, Rosetrees Trust, The Wellcome Trust and the National Institute for Health (NIHR) UCL/UCLH BRC. Research (NIHR) UCLH/UCL Biomedical Research Centre.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. My laboratory is funded by: The Dystonia Medical Research Foundation (DMRF), The Parkinson's Disease Foundation (PDF), National Organisation for Rare Disorders (NORD) and The Brain Research Trust (BRT). The National Institute for Health Research (NIHR) UCLH/UCL Biomedical Research Centre.

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  11. Nick C. Fox, FRCP and
    12. Scientific Advisory Boards:

    1. Payments were made to University College London (1)Biogen

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Alzheimer's Disease and Associated Disorders, Editorial Board Member, 2004 to present; No compensation (2) Neurodegenerative Diseases, Editorial Board Member, 2004 to present; No compensation (3) Alzheimer?s Research and Therapy, Editorial Board Member, 2008 to present; No compensation (4) Lancet Neurology, Editorial Board Member, 2014 to present; No compensation

    Patents:

    1. (1) QA Box for automated checking of MRI scans; Filed 4 May 2007

    Publishing Royalties:

    1. (1) Neuroimaging in Dementia, Springer, 2011

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Payments were made to University College London. (1) Janssen (2) Roche/Genentech (3)Eli Lilly (4) Novartis Pharma AG (5) Sanofi (6) GSK (7) Biogen

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Payments were made to the Dementia Research Centre, UCL (no personal compensation to me) for A. Image analyses for: (1) Janssen Alzheimer's Immunotherapy (2) Wyeth B. My Institution also received payment for my participation on advisory boards for (1) Novartis, 2015 (2) Eli Lilly, 2015 (3) Genentech/Roche, 2014 (4) GSK, 2015 (5) Biogen, 2016 - for DMC participation All payments were made to my Institution (University College London) and although I did not receive personal compensation these payments benefited my research group.

    Research Support, Government Entities:

    1. (1) MRC (UK), [Grant G0801306], PI, 2009-14; (2) NIA, Grant [U01 AG024904], Co-I, 2005-2014; (3) NIHR, Senior Investigator Award, 2009-present (3) NIHR, Queen Square Biomedical Research Unit in Dementia, 2012-present

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) Wolfson Foundation, funding for the Leonard Wolfson Experimental Neurology Centre

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  12. Indran Davagnanam, FRCR
    13. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. National Institute of Health Research UCL/UCLH Biomedical Research Centre funding for one consultant session since 2013.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Lysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
  1. Correspondence to Dr. Davagnanam: i.davagnanam{at}ucl.ac.uk
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