Share

January 07, 2020; 94 (1) ArticleOpen Access

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

Andrea Cortese, Janel E. Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexander M. Rossor, Matilde Laura, Pedro J. Tomaselli, Henry Houlden, Michael E. Shy, Mary M. Reilly
First published December 11, 2019, DOI: https://doi.org/10.1212/WNL.0000000000008672
Full PDF
Short Form
Citation
Permissions

Make Comment

See Comments

Downloads
1932

Share

This article has corrections. Please see:

Article Information

vol. 94 no. 1 e51-e61
DOI: 
https://doi.org/10.1212/WNL.0000000000008672
PubMed: 
31827005
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received March 14, 2019
  • Accepted in final form June 24, 2019
  • First Published December 11, 2019.

Article Versions

Copyright & Usage: 
Copyright © 2019 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. Andrea Cortese, MD, PhD,
    2. Janel E. Wilcox, MS, CGC,
    3. James M. Polke, PhD,
    4. Roy Poh, PhD,
    5. Mariola Skorupinska, MA,
    6. Alexander M. Rossor, FRCP, PhD,
    7. Matilde Laura, MD,
    8. Pedro J. Tomaselli, MD,
    9. Henry Houlden, MD, PhD,
    10. Michael E. Shy, MD and
    11. Mary M. Reilly, MD, FRCPI, FRCP
  1. Andrea Cortese, MD, PhD,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Editorial Advisory Board Member of Journal of the Peripheral Nervous System

    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. Inherited neuropathy consortium, which is a part of the NIH Rare Diseases Clinical Research Network (RDCRN) (U54NS065712) and Wellcome Trust (204841/Z/16/Z).

    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. Janel E. Wilcox, MS, CGC,
    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. (1)- InformedDNA, genetic analyst, 4 months- I am currently employed here, but was not during the research completed for this manuscript.

    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. Muscular Dystrophy Association-A grant through the MDA funded part of my salary previously.

    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. James M. Polke, PhD,
    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. Roy Poh, PhD,
    5. 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

  5. Mariola Skorupinska, MA,
    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. Alexander M. Rossor, FRCP, PhD,
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. I have received an honorarium from Anylam pharmaceuicals of <$1000 to speak at a sponsored symposium. I have also received support from Anylam for travel and accomodation to attend a scientific meeting.

    Editorial Boards:

    1. (1) Journal of the peripheral nerve society, associate editor, 1 year

    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. Wellcome Trust Postdoctoral Fellowship for Clinicians (110043/Z/15/Z)

    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. Matilde Laura, MD,
    8. 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

  8. Pedro J. Tomaselli, MD,
    9. 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

  9. Henry Houlden, MD, PhD,
    10. 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, Ataxia UK, Muscular Dystrophy UK, Rosetrees Trust, The Wellcome Trust and the National Institute for Health (NIHR) UCL/UCLH BRC.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

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

    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. Michael E. Shy, MD and
    11. Scientific Advisory Boards:

    1. (1) Charcot Marie Tooth Association-Non Profit (2) Muscular Dystrophy Association (MDA)-Non Profit

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Alnylam Pharmaceuticals - Speaker

    Editorial Boards:

    1. Journal of Peripheral Nervous System, Editorial Board Neuromuscular Disorders, Editorial Board Muscle and Nerve, Editorial Board

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Alnylam Pharmaceuticals - Consultant (2) Acceleron Pharmaceuticals - Consultant (3) Inflectis BioSci - Consultant

    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. NINDS/Office of Rare Disease/NCATS

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) Muscular Dystrophy Association; (2) Charcot Marie Tooth Association

    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. Mary M. Reilly, MD, FRCPI, FRCP
    12. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Brain, Editorial Board, appointed 2008; (2) Neuromuscular Disorders, Editorial Board, appointed 2005; (3) editorial board JNNP (current)

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1)Commercial entity: One off consultancy for Servier January 2016 on subject not related to this submission. Also consult for Acceleron on unrelated subject Occasional consultancy for Alynam, IONIS, Myotherix, Inflectis

    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. NIH grant U54NS065712 MRC centre grant G0601943

    Research Support, Academic Entities:

    1. • MDA grant (MDA510281) Muscle MRI in Charcot Marie Tooth disease (PI) 2017-2020 CLRN grant to support NIH RDCRC natural history study (PI) (2011-2012) • MRC - Using Next Generation Sequencing to investigate neuromuscular disorders. Project grant (CO- PI) (2011-2014) • Wellcome Trust – A next generation sequencer for the Institute of Neurology. Equipment Grant” (CO-PI) (2011 – 2016) • UCL CBRC – A next generation sequencer for the Institute of Neurology. Capital bid (CO-PI) (2011-2016) • Ipsen training grant for Dr. Alex Rossor (2010-2011). • NIHR Doctoral Research Training Fellowship for Dr. Taibish Saifee “The clinical spectrum and pathophysiology of tremor in peripheral neuropathy” (Supervisor) (2010-2013) • Muscular Dystrophy Association (US) grant “Genetic Modifiers of the CMT1A phenotype” (Mentor on development grant for Henry Houlden) (2009-2012) • Muscular dystrophy campaign grant “Strengthening Hip Flexors to improve walking distance in people with Charcot-Marie-Tooth disease” (PI) (2008-2010) • UCLH / UCL Comprehensive Biomedical Research Centre “Investigation of the genes responsible for Charcot Marie tooth disease and related disorders in a UK population and development/implementation of diagnostic guidelines and genetic testing” (PI) (2008-2010) • CRDC project grant “Pathomechanism and possible treatment strategies for distal hereditary neuropathies secondary to HSP27 mutations (CO-PI) (2008-2010) • Muscular Dystrophy campaign centre grant “Combined Dubowitz and Institute of Neurology neuromuscular centre grant (CO-PI) (2008-2011)

    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 MRC Centre for Neuromuscular Diseases (A.C., J.M.P., R.P., M.S., A.M.R., M.L., P.J.T., H.H., M.M.R.), Department of Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; and the Department of Neurology (J.E.W., M.E.S.), University of Iowa Carver College of Medicine, Iowa City.
  1. Correspondence
    Dr. Reilly m.reilly{at}ucl.ac.uk
View Full Text

Article usage

Article usage: December 2019 to April 2022

AbstractFullPdfSource
Dec 201949493245Highwire
Jan 202061389237Highwire
Feb 20203921990Highwire
Mar 20201722267Highwire
Apr 20202517258Highwire
May 20201323767Highwire
Jun 2020753941Highwire
Jul 20201011919Highwire
Aug 2020109623Highwire
Sep 20201112542Highwire
Oct 2020611564Highwire
Nov 20201312755Highwire
Dec 20203511546Highwire
Jan 20212113453Highwire
Feb 20211210435Highwire
Mar 20212315574Highwire
Apr 20211410528Highwire
May 20211511664Highwire
Jun 2021910541Highwire
Jul 20211213432Highwire
Aug 20211110933Highwire
Sep 2021168961Highwire
Oct 20211112486Highwire
Nov 20212012689Highwire
Dec 20212212269Highwire
Jan 20221312059Highwire
Feb 2022159858Highwire
Mar 2022379063Highwire
Apr 2022229433Highwire

Cited By...

Disputes & Debates: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
Advertisement

Related Articles

Topics Discussed

Alert Me