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February 2021; 7 (1) ArticleOpen Access

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

Andreea Ilinca, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, Andreas Puschmann
First published January 21, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000548
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Article Information

vol. 7 no. 1 e548
DOI: 
https://doi.org/10.1212/NXG.0000000000000548
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received June 15, 2020
  • Accepted in final form November 9, 2020
  • First Published January 21, 2021.
Copyright & Usage: 
Copyright © 2021 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-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Andreea Ilinca, MD, PhD,
    2. Elisabet Englund, MD, PhD (elisabet.englund{at}med.lu.se),
    3. Sofie Samuelsson, MSc (sofie.samuelsson{at}skane.se),
    4. Katarina Truvé, PhD (katarina.truve{at}gu.se),
    5. Efthymia Kafantari, MSc, MSc (ef.kafantari{at}gmail.com),
    6. Nicolas Martinez-Majander, MD (nicolas.martinez-majander{at}hus.fi),
    7. Jukka Putaala, MD, PhD (jukka.putaala{at}hus.fi),
    8. Claes Håkansson, MD (claes.o.hakansson{at}skane.se),
    9. Arne G. Lindgren, MD, PhD* (arne.lindgren{at}med.lu.se) and
    10. Andreas Puschmann, MD, PhD* (andreas.puschmann{at}med.lu.se)
  1. Andreea Ilinca, MD, PhD,
    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. (1)Region Skane, Sweden(2)Lund University, Sweden(3)Skane University Hospital, Sweden

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1)The Swedish Heart-Lung Foundation, Sweden(2)King Gustaf V and Queen Victoria Foundation, Sweden(3)The Swedish Stroke Association, Sweden(4)The Freemasons Lodge of Instruction EOS in Lund(5)The Swedish Parkinson Academy (

    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. Elisabet Englund, MD, PhD (elisabet.englund{at}med.lu.se),
    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. Sofie Samuelsson, MSc (sofie.samuelsson{at}skane.se),
    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. Katarina Truvé, PhD (katarina.truve{at}gu.se),
    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. 1. NBIS (National Bioinformatics Infrastructure Sweden)

    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. Efthymia Kafantari, MSc, MSc (ef.kafantari{at}gmail.com),
    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. Nicolas Martinez-Majander, MD (nicolas.martinez-majander{at}hus.fi),
    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. Jukka Putaala, MD, PhD (jukka.putaala{at}hus.fi),
    8. Scientific Advisory Boards:

    1. (1) Advisory Board: Boehringer-Ingelheim (2) Advisory Board: Bayer (3) Advisory Board: BMS-Pfizer (4) Advisory Board: Portola (5) Advisory Board: Herantis Pharma

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Speaker honoraria: Boehringer-Ingelheim (2) Speaker honoraria: Bayer (3) Speaker honoraria: BMS-Pfizer (4) Speaker honoraria: Abbott

    Editorial Boards:

    1. (1) European Stroke Journal: Editorial Board member (2) Terve Media: Visiting Editor

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Consultancy: Amgen

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Nonrestricted grant from St. Jude Medical (2) Nonrestricted grant from Pfizer

    Research Support, Government Entities:

    1. (1) Helsinki-Uusimaa Hospital District (2) Academy of Finland

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. Stock ownership: Vital Signum Ltd.

    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. Claes Håkansson, MD (claes.o.hakansson{at}skane.se),
    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. Arne G. Lindgren, MD, PhD* (arne.lindgren{at}med.lu.se) and
    10. Scientific Advisory Boards:

    1. (1)Astra Zeneca (2)Bristol-Myers Squibb (3)Pfizer (4)Bayer (5)Portola

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1)Astra Zeneca, speaker honoraria (2)Bristol-Myers Squibb, speaker honoraria (3)Pfizer, speaker honoraria, travel (4)Bayer, speaker honoraria

    Editorial Boards:

    1. (1) Neurologi i Sverige. Editorial advisory board member.

    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. Andreas Puschmann, MD, PhD* (andreas.puschmann{at}med.lu.se)
    11. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) International Parkinson and Movement Disorder Society, travel reimbursement and speaker honoraria, (2) Scandinavian Movement Disorder Society, travel reimbursement, (3) International Association of Parkisonism and Related Disorders, travel reimbursement, (4) Swedish Movement Disorder Society SWEMODIS, travel reimbursement

    Editorial Boards:

    1. (1) BMC Neurology, Associate Editor, 2013-2015, (2) Parkinsonism and Related Disorders, Editorial Board Member, 2012-ongoing, Associate Editor 2018-ongoing

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Swedish National Board of Health and Welfare (Socialstyrelsen) for the preparation of national guidelines for the treatment of Parkinson’s Disease

    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) Governmental funding for clinical research within the Swedish National Health Services (ALF), salary for time spent in research, 2012-ongoing, (2) Region Skåne research support

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) The Swedish Parkinson Foundation (Parkinsonfonden), (2) Skåne University Hospital research grants, (3) Hans Gabriel och Alice Trolle-Wachtmeister Stiftelse, (4) The Swedish Parkinson Academy

    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 Department of Clinical Sciences Lund, Neurology (A.I., E.K., A.G.L., A.P.), Lund University; Section of Neurology (A.I., E.K., A.G.L., A.P.), Skåne University Hospital, Lund; Department of Clinical Genetics and Pathology (E.E., S.S.), Laboratory Medicine, Region Skåne; Department of Clinical Sciences Lund (E.E.), Division of Pathology, Lund University; Bioinformatics Core Facility (K.T.), Sahlgrenska Academy at University of Gothenburg, Sweden; Neurology (N.M.-M., J.P.), University of Helsinki, and Helsinki University Hospital, Finland; Department of Imaging and Function (C.H.), Skånes University Hospital, Lund; and Department of Clinical Sciences, Diagnostic Radiology (C.H.), Lund University, Sweden
  1. Correspondence
    Dr. Ilinca Andreea.Ilinca{at}med.lu.se
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