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December 2018; 4 (6) ArticleOpen Access

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

Channa A. Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K. Robinson, Nick J. Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis, Priya Shanmugarajah, Panagiotis Zis, Basil Sharrack, Christopher J. McDermott, Pamela J. Shaw, Marios Hadjivassiliou
First published October 24, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000279
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Article Information

vol. 4 no. 6 e279
DOI: 
https://doi.org/10.1212/NXG.0000000000000279
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received April 24, 2018
  • Accepted in final form August 16, 2018
  • First Published October 24, 2018.
Copyright & Usage: 
Copyright © 2018 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. Channa A. Hewamadduma, MBBS, FRCP, PhD,
    2. Nigel Hoggard, MBBS, MD, FRCP,
    3. Ronan O'Malley, MBBS, MRCP,
    4. Megan K. Robinson, MBChB, MRCP,
    5. Nick J. Beauchamp, PhD,
    6. Ruta Segamogaite, MSc,
    7. Jo Martindale, PhD,
    8. Tobias Rodgers,
    9. Ganesh Rao, MBBS, MD, FRCP,
    10. Ptolemaios Sarrigiannis, MBBS, MD, FRCP,
    11. Priya Shanmugarajah, MBChB, MD, MRCP,
    12. Panagiotis Zis, MBBS, MD,
    13. Basil Sharrack, MBBS, FRCP, PhD,
    14. Christopher J. McDermott, MBBS, FRCP, PhD,
    15. Pamela J. Shaw, MBBS, MD, FRCP, FMedSci and
    16. Marios Hadjivassiliou, MBBS, MD, FRCP
  1. Channa A. Hewamadduma, MBBS, FRCP, PhD,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Griffols ltd sponsored travel to a conference in Barcelona

    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. Nigel Hoggard, MBBS, MD, FRCP,
    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. Ronan O'Malley, 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

  4. Megan K. Robinson, MBChB, MRCP,
    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. Nick J. Beauchamp, PhD,
    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. Ruta Segamogaite, MSc,
    7. 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

  7. Jo Martindale, 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

  8. Tobias Rodgers,
    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. Ganesh Rao, MBBS, MD, FRCP,
    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. 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

  10. Ptolemaios Sarrigiannis, MBBS, MD, 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. 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. Priya Shanmugarajah, MBChB, MD, MRCP,
    12. 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

  12. Panagiotis Zis, MBBS, MD,
    13. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Editorial board member, Pain and Therapy, since 2017

    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

  13. Basil Sharrack, MBBS, FRCP, PhD,
    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. 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

  14. Christopher J. McDermott, MBBS, FRCP, PhD,
    15. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. UK patent held for cervical orthosis.

    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. Synapse Biomedical

    Research Support, Government Entities:

    1. 1. NIHR Programme Grant - ?2.4M HighCALS, CI, 2018-2023

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. 1. Marie Curie - Prosec, ?250,000, CI 2018-2020; 2. MND Association - PosGas, ?200,000, CI

    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

  15. Pamela J. Shaw, MBBS, MD, FRCP, FMedSci and
    16. Scientific Advisory Boards:

    1. Served on Scientific Advisory Board or Trial Steering Committee for the following studies: 1. Commercial entity: ORION PHARMA 2015-2016. LEVALS Effects of ODM-109 on respiratory function in patients with ALS. A randomised, double blind, placebo-controlled, cross-over, 3 period, multicentre study with open-label follow-up extension. 2. Commercial entity: BIOGEN 2016 -2018 A Phase 1 Placebo- Controlled, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB067 Administered to Adult Subjects with Amyotrophic Lateral Sclerosis. 3. Commercial entity: BIOGEN 2016 ? 2018Methodology Study of Novel Electrophysiological, Physical, and Imaging Outcome Measures to Assess the Progression of Amyotrophic Lateral Sclerosis. 4. Commercial entity: Member of the advisory board to Treeway (non-compensated).

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Editorial Board Member of the journal Amyotrophic Lateral Sclerosis and the Frontotemporal Lobar Degenerations from 2007.

    Patents:

    1. 1. Therapeutics for neurological disorders. Inventors Shaw PJ, Mead R, Higginbottom A, Barber SC (2010). Publication number WO2010046710 (A1) describing NRF2 activating compounds for treatment of neurodegenerative diseases. 2. Orphan drug designation for S-apomorphine in the treatment of amyotrophic lateral sclerosis granted 2012 by the European Medicines regulatory agency.

    Publishing Royalties:

    1. Oxidative stress in ALS. PJ Shaw. In Davies K (ed). Free radicals and the oxygen paradox: Oxidative stress in Biology, Aging and Disease. The biomedical and Life Sciences Collections, Henry Stewart Talks, London (online at http://www.hstalks.com/? t=BL0281828-Shaw). 2007. Brain's Diseases of the Nervous System 12th Edition. Editor M. Donaghy. Oxford University Press. Since 2008.

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Consultancies undertaken for the following commercial entities: 1. Biogen Idec 2. Sanofi-Aventis 3. Cytokinetics Inc 4. Ono Pharma 5. Vertex Pharmaceuticals 6. Eclipse

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. ORION PHARMA 2015-2016 STH19012. LEVALS Effects of ODM- 109 on respiratory function in patients with ALS. A randomised, double blind, placebo-controlled, cross-over, 3 period, multicentre study with open-label follow-up extension. BIOGEN 2016 -2018 A Phase 1 Placebo-Controlled, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB067 Administered to Adult Subjects with Amyotrophic Lateral Sclerosis. BIOGEN 2016 ? 2018 Methodology Study of Novel electrophysiological, Physical, and Imaging Outcome Measures to Assess the Progression of Amyotrophic Lateral Sclerosis. PFIZER 2017 ? 2018 ?168,984 The involvement of C9ORF72 mutations in ALS and FTD.

    Research Support, Government Entities:

    1. SAUDI ARABIA GOVERNMENT Post-Doctoral Scholarship for Sufana al Mashadi 2015-2016 The generation and characterisation of stem-cell derived astrocytes, from skin biopsies of genetic subgroups of motor neuron disease. MEDICAL RESEARCH COUNCIL 2014-2016 Diabetes, defective nutrient signalling and dementia: an epidemiological neuropathology approach. Co-applicant. (242-AS-PG-14-015) MEDICAL RESEARCH COUNCIL CONFIDENCE IN CONCEPT SCHEME 2017- 2018. MEDICAL RESEARCH COUNCIL CoEN PATHFINDER III 2017-2019 Developing preclinical and clinical biomarkers of Nrf2 pathway activation for application in neurodegenerative diseases.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. EU HORIZON 2020 PHC 13 2014 -2018. MIROCALS (modifying immune response and outcomes in ALS). Efficacy and safety of low-dose IL-2 (Id-IL-2) as a Treg enhancer for anti-inflammatory therapy in newly diagnosed amyotrophic lateral sclerosis (ALS) patients. Multicentre study PJ Shaw Sheffield PI. (633413). MOTOR NEURONE DISEASE ASSOCIATION and Yorkshire and Humber Clinical Research Network 2015-2018. To support a regional and national Clinical Research Coordinator for motor neuron disease and dementia. (MDN002661). MOTOR NEURONE DISEASE ASSOCIATION 2015 -2018. Development of a C9ORF72 transgenic zebrafish model of ALS. (Ramesh/Oct14/875-792). NIHR i4i and MND Association 2015 -2016. 100 collars project CJ McDermott (PI), PJ Shaw, N Herron, H Read, J Langley, A Quinn. (11-FS-0909-13036). MOTOR NEURONE DISEASE ASSOCIATION 2015 -2018. Early neuronal circuitry dysfunction as a target for treatment of amyotrophic lateral sclerosis. Co- applicant with Dr J McDearmid and Dr T Ramesh. ALS Worldwide 2015 -2016. Pre-clinical evaluation of microneurotrophins as a potential neuroprotective therapy for amyotrophic lateral sclerosis. PI Co- applicants RJ Mead, T Ramesh, K Ning. MOTOR NEURONE DISEASE ASSOCIATION 2015-2018. Bioenergetic profiling of cellular ALS models (MNDA Senior Non-Clinical Fellowship ? Scott Allen, Allen/Oct15/956-799). MOTOR NEURONE DISEASE ASSOCIATION 2014-2016. Technical support for whole genome sequencing. (Shaw/Nov14/911-793). MOTOR NEURONE DISEASE ASSOCIATION 2016-2020. A multicentre biomarker resource strategy in ALS: AMBRoSIA. PI with Martin Turner (Oxford) and Dr Andrea Malaspina (London). MOTOR NEURONE DISEASE ASSOCIATION 2016-2020 NECTAR. Co-PI. MOTOR NEURONE DISEASE ASSOCIATION 2017 ? 2020. Renewal of Care and Research Centre for Motor Neuron Disorders. PI. European Innovative Training Network: EURONeurotrophin 2018 ? 2022. MOTOR NEURONE DISEASE ASSOCIATION 2017 ? 2020 Utilizing the C9ORF72 zebrafish model of MND to identify and validate a novel disease modifying therapy. Co-applicant with Tennore Ramesh and Guillaume Hautbergue. WELLCOME TRUST 2018-2020 ?265,333. Characterising astrocyte metabolic defects in sporadic and familial Alzheimer?s disease to identify new therapeutic targets. Clinical Training Fellowship for Dr Simon Bell. PI.

    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

  16. Marios Hadjivassiliou, MBBS, MD, FRCP
    17. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Cerebellum and Ataxias

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Celimune

    Speakers' Bureaus:

    1. NONE

    Other activities:

    1. Member of the medical advisory boards of Ataxia UK and Coeliac UK

    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

  1. From the Academic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.
  1. Correspondence
    Dr. Hewamadduma chewamadduma{at}nhs.net or Prof. Hadjivassiliou m.hadjivassiliou{at}sheffield.ac.uk
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