Share

October 11, 2016; 87 (15) ArticleOpen Access

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

Alejandro Horga, Pedro J. Tomaselli, Michael A. Gonzalez, Matilde Laurà, Francesco Muntoni, Adnan Y. Manzur, Michael G. Hanna, Julian C. Blake, Henry Houlden, Stephan Züchner, Mary M. Reilly
First published September 14, 2016, DOI: https://doi.org/10.1212/WNL.0000000000003212
Full PDF
Citation
Permissions

Make Comment

See Comments

Downloads
1455

Share

Article Information

vol. 87 no. 15 1607-1612
DOI: 
https://doi.org/10.1212/WNL.0000000000003212
PubMed: 
27629094
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 29, 2016
  • Accepted in final form June 24, 2016
  • First Published September 14, 2016.

Article Versions

Copyright & Usage: 
© 2016 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. Alejandro Horga, MD*,
    2. Pedro J. Tomaselli, MD*,
    3. Michael A. Gonzalez, PhD,
    4. Matilde Laurà, PhD,
    5. Francesco Muntoni, MD,
    6. Adnan Y. Manzur, MD,
    7. Michael G. Hanna, FRCP,
    8. Julian C. Blake, MRCP,
    9. Henry Houlden, PhD,
    10. Stephan Züchner, MD and
    11. Mary M. Reilly, FRCP
  1. Alejandro Horga, MD*,
    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. Pedro J. Tomaselli, MD*,
    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. Brazilian National Council for Scientific and Technological Development (CNPq),205854/2014-1, research, 2015.

    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. Michael A. Gonzalez, 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. Matilde Laurà, 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. NINDS/ORD (1U54NS065712-01), 2010-2013

    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

  5. Francesco Muntoni, MD,
    6. Scientific Advisory Boards:

    1. (1) AVI Biopharma, Scientific Advisory Board, 2009-2010; (2) GSK, Scientific Advisory Board, 2011 (x1) (3) Pfizer, Scientific Advisory Board 2014 (x1) (4) Sarepta, Scientific advisory board 2014 (x1) (5) Roche, Scientific advisory Board 2013 (x1) (6) PTC Therapeutics, Scientific Advisory board 2013 and 2014 (x2) (7) Summit Scientific Advisory Board 2013 (x2)

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Neuromuscular Disorders, Editorial Board; (2) Neuropaediatrics, Editorial Board

    Patents:

    1. NONE

    Publishing Royalties:

    1. Duchenne muscular dystrophy. Oxford University Press, 2003

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Pfizer 2014

    Speakers' Bureaus:

    1. Sarepta Symposium, International Neuromuscular Meeting Nice 2014 PTC Symposium, International Neuromuscular Meeting Nice 2014 Roche Symposium on SMA, Vienna 2015

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Ionis (grant to UCL); (2) PTC124 (grant to UCL); (3) Biomarin grant to UCL); (4) Roche (grant to UCL); (5) Summit plc (grant to UCL);

    Research Support, Government Entities:

    1. (1) Wellcome Trust, (2) EU-FP7, (3) Medical Research Council, (4) Muscular Dystrophy Campaign, (5) Muscular Dystrophy Association USA, (6) SMA Trust; (8) AFM, (9) NIHR, (10) British Heart Foundation

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. SMA TRUST grant to UCL

    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. Adnan Y. Manzur, MD,
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. travel funded to ENMC workshop on Duchenne Muscular Dystrophy (By the organising ENMC European Neuromuscular Centre) in Dec 2010

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NHS consultant at Great Ormond Street Hospital Trust London - main full time job

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other activities:

    1. Lead clinician for UK North Star Clinical Network and National Neuromuscular Database - unpaid job part of NHS work

    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

  7. Michael G. Hanna, FRCP,
    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. novartis

    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. (1) MRC Centre Grant, MR/K000608/1. (2) The Myositis Support Group.

    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. Julian C. Blake, MRCP,
    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, 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, Rosetrees Trust, The Wellcome Trust and the National Institute for Health 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

  10. Stephan Züchner, MD and
    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. 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

  11. Mary M. Reilly, 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) Journal of the Peripheral Nervous System, Editorial Board, appointed 2005 (4) 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.

    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. ? 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.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.
  1. Correspondence to Dr. Reilly: m.reilly{at}ucl.ac.uk
View Full Text

Article usage

Article usage: September 2016 to January 2023

AbstractFullPdfSource
Sep 2016780099Highwire
Oct 2016153272114Highwire
Oct 20160206pmc
Nov 20163052856Highwire
Nov 201603816pmc
Dec 20161142830Highwire
Dec 2016082pmc
Jan 2017149918Highwire
Jan 201702814pmc
Feb 2017752627Highwire
Feb 20170147pmc
Mar 2017521015Highwire
Mar 20170184pmc
Apr 201730613Highwire
Apr 201751919pmc
May 2017511215Highwire
May 201762824pmc
Jun 20172943Highwire
Jun 201772221pmc
Jul 201715812Highwire
Jul 201751618pmc
Aug 20171368Highwire
Aug 201781211pmc
Sep 201718920Highwire
Sep 201761831pmc
Oct 20172477Highwire
Oct 201761413pmc
Nov 20176715Highwire
Nov 201781818pmc
Dec 201742411Highwire
Jan 201821314Highwire
Feb 2018656Highwire
Mar 2018799Highwire
Apr 201851917Highwire
Apr 201811618pmc
May 2018102633Highwire
Jun 2018757Highwire
Jun 201861317pmc
Jul 201861817Highwire
Aug 201841112Highwire
Aug 201851923pmc
Sep 201841014Highwire
Oct 201881415Highwire
Nov 20186175Highwire
Dec 20188175Highwire
Jan 2019684Highwire
Feb 20193207Highwire
Mar 201911815Highwire
Apr 20192137Highwire
May 20195138Highwire
Jun 201922511Highwire
Jul 20193134Highwire
Aug 20190163Highwire
Sep 2019378Highwire
Oct 20196125Highwire
Nov 20193269Highwire
Dec 20191146Highwire
Jan 20203191Highwire
Feb 20202187Highwire
Mar 20206315Highwire
Apr 202014117Highwire
May 202062324Highwire
Jun 20201117Highwire
Jul 20209309Highwire
Aug 202021112Highwire
Sep 202011274Highwire
Oct 20203396Highwire
Nov 20206209Highwire
Dec 202062011Highwire
Jan 20211319Highwire
Feb 202143313Highwire
Mar 202183415Highwire
Apr 20215319Highwire
May 202103915Highwire
Jun 20216203Highwire
Jul 202152717Highwire
Aug 202132215Highwire
Sep 202142814Highwire
Oct 202133235Highwire
Nov 2021104032Highwire
Dec 202183015Highwire
Jan 202202315Highwire
Feb 202273513Highwire
Mar 202223227Highwire
Apr 202234415Highwire
May 202253120Highwire
Jun 20223177Highwire
Jul 202242520Highwire
Aug 202202011Highwire
Sep 202251415Highwire
Oct 202212612Highwire
Nov 202253312Highwire
Dec 20224159Highwire
Jan 20231299Highwire

Cited By...

Letters: 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

Topics Discussed

Alert Me