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October 2021; 11 (5) Case

Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis

Laura Cechin, Jihad Gasmelseed, James Bashford, Dorota Rowczenio, Mary M. Reilly, Julian D. Gillmore, Ester Coutinho
First published January 29, 2021, DOI: https://doi.org/10.1212/CPJ.0000000000001054
Laura Cechin
King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
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Jihad Gasmelseed
King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
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James Bashford
King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
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Dorota Rowczenio
King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
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Mary M. Reilly
King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
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Julian D. Gillmore
King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
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Ester Coutinho
King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
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Full PDF
Citation
Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis
Laura Cechin, Jihad Gasmelseed, James Bashford, Dorota Rowczenio, Mary M. Reilly, Julian D. Gillmore, Ester Coutinho
Neurol Clin Pract Oct 2021, 11 (5) e757-e759; DOI: 10.1212/CPJ.0000000000001054

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Article Information

vol. 11 no. 5 e757-e759
DOI: 
https://doi.org/10.1212/CPJ.0000000000001054

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
2163-0402
Online ISSN: 
2163-0933
History: 
  • Received September 30, 2020
  • Accepted January 6, 2021
  • First Published January 29, 2021.

Article Versions

  • Previous version (January 29, 2021 - 12:45).
  • You are viewing the most recent version of this article.
Copyright & Usage: 
© 2021 American Academy of Neurology

Author Disclosures

    1. Laura Cechin, MBBS, MRCP*,
    2. Jihad Gasmelseed, MBBS, MRCP*,
    3. James Bashford, MRCP, PhD,
    4. Dorota Rowczenio, PhD,
    5. Mary M. Reilly, MD, FRCP, FRCPI,
    6. Julian D. Gillmore, MBBS, MD, PhD and
    7. Ester Coutinho, MD, DPhil
  1. Laura Cechin, MBBS, MRCP*,
  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

  3. Jihad Gasmelseed, MBBS, MRCP*,
  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

  5. James Bashford, MRCP, PhD,
  6. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. (1) Novartis Gene Therapies, travel to attend international conference.

    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. (1) Medical Research Council, MR/P000983/1, Clinical Research Training Fellow, 3 years

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. (1) Motor Neurone Disease Association, (2) Rosetrees Trust

    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. Dorota Rowczenio, PhD,
  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

  9. Mary M. Reilly, MD, FRCP, FRCPI,
  10. Scientific Advisory Boards:
    1. Commercial 1. Inflectis scientific advisory board

    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: Occasional consultancy for Alynam, Inflectis, IONIS and Akcea

    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

  11. Julian D. Gillmore, MBBS, MD, PhD and
  12. Scientific Advisory Boards:
    1. Expert Advisory Board member for Eidos Therapeutics, Alnylam Pharmaceuticals, Ionis and Prothena Inc.

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. Speaker honoraria from Alnylam and Eidos

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. Speaker at Alnylam and Eidos sponsored meetings

    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

  13. Ester Coutinho, MD, DPhil
  14. 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. (1) UCB Pharma - Named researcher in a UCB Pharma-funded grant

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. (1) MRC Centre for Neurodevelopmental disorders - Clinical fellowship

    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. King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.
  1. Correspondence
    Dr. Coutinho ester.coutinho{at}kcl.ac.uk
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