Share

April 2022; 8 (2) Research ArticleOpen Access

ALS in Finland

Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion

Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan J. Traynor, Karri Kaivola, Pentti J. Tienari
First published March 14, 2022, DOI: https://doi.org/10.1212/NXG.0000000000000665
Full PDF
Citation
Permissions

Make Comment

See Comments

Downloads
500

Share

Article Information

vol. 8 no. 2 e665
DOI: 
https://doi.org/10.1212/NXG.0000000000000665
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received October 4, 2021
  • Accepted in final form January 26, 2022
  • First Published March 14, 2022.
Copyright & Usage: 
Copyright © 2022 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. Hannu Laaksovirta, MD,
    2. Jyrki Launes, MD, PhD (jyrki.launes{at}gmail.com),
    3. Lilja Jansson (lilja.jansson{at}hus.fi),
    4. Bryan J. Traynor, MD, PhD (traynorb{at}mail.nih.gov),
    5. Karri Kaivola, MD, PhD (karri.kaivola{at}helsinki.fi) and
    6. Pentti J. Tienari, MD, PhD (pentti.tienari{at}hus.fi)
  1. Hannu Laaksovirta, 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. Jyrki Launes, MD, PhD (jyrki.launes{at}gmail.com),
    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. Lilja Jansson (lilja.jansson{at}hus.fi),
    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. Bryan J. Traynor, MD, PhD (traynorb{at}mail.nih.gov),
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) The Italian Football Federation (FIGC), travel expenses; (2) American Academy of Neurology, travel expenses; (3) Cold Spring Harbor Laboratories, travel expenses; (4) The Italian ALS Association (ARISLA), travel expenses; (5) Movement Disorders Society, travel expenses; (6) Wellcome Trust, travel expenses; (7) The Finnish Neurological Society, travel expenses; (8) The NorthEast ALS Consortium (NEALS), travel expenses; (9) UC Irivine, travel expenses; (10) The ALS Hope Foundation, travel expenses; (11) The ALS Association, travel expenses; (12) The American Academy of Neurology, travel expenses; (13) The Motor Neuron Association (UK), travel expenses; (14) Microsoft Research, travel expenses; (15) The Italian Neurological Society, travel expenses; (16) The University of Toronto, travel expenses; (17) The International Congress of Human Genetics, travel expenses; (18) Society for Neuroscience, travel expenses; (19) University of Albany, travel expenses

    Editorial Boards:

    1. Neurology, editorial board, 2011-2011 Journal of Neurology, Neurosurgery, and Psychiatry, editorial board, 2013 - ongoing Neurobiology of Aging, editorial board, 2015 - JAMA Neurology, editorial board, 2017 - 2021 Brain, associate editor, 2021 - Lancet eClinical Medicine, editorial board, 2021 -

    Patents:

    1. I hold the European, Canadian and US patents on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of the C9ORF72 gene.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. National Institutes of Health

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Merck Inc; (2) Cerevel Inc;

    Research Support, Government Entities:

    1. (1) Intramural Research Program of the NIH (where I work).

    Research Support, Academic Entities:

    1. (1) academic entity: Department of Neurology, Johns Hopkins University, Baltimore, MD, USA (2) academic entity: Queen Square Neurology, University College London, London, UK

    Research Support, Foundations and Societies:

    1. (1) The Myasthenia Gravis Foundation; (2) the ALS Association; (3) The Packard Center for ALS Research; (4) FIGC (The Italian Football Federation); (5) the Center for Disease Control and Prevention; (6) Microsoft Research; (7) The Italian ALS Association (ARISLA); (8) The Muscular Dystrophy 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

  5. Karri Kaivola, MD, PhD (karri.kaivola{at}helsinki.fi) and
    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. (1) The Finnish Cultural Foundation, (2) The Päivikki and Sakari Sohlberg Foundation, (3) The Finnish Parkinson Foundation

    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. Pentti J. Tienari, MD, PhD (pentti.tienari{at}hus.fi)
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Funding for congress travel: TEVA, Merck (Europe), Biogen, Sanofi-Genzyme, Novartis. Speaker honoraria: Biogen, Merck (Europe), TEVA, Novartis, Sanofi-Genzyme, Orion, Roche.

    Editorial Boards:

    1. Guest editor in Frontiers of Immunology 2020-2021 in research topic entitled

    Patents:

    1. Pentti Tienari is one of the inventors in a patent on the genetic testing of the hexanucleotide repeat expansion of C9orf72 implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

    Publishing Royalties:

    1. Duodecim kustannus Inc. Medical text book chapter royalties about 30€ per year.

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Consultation to Jansen-Cilaq and Roche.

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1. Investigator initiated grants from Biogen Finland, Roche, Novartis Finland, Sanofi-Genzyme. 2. Whole-genome sequencing of the ALS cohort and Vantaa85+ brain aging cohort has been supported by Merck & Co, Inc., USA. 3. Merck (Europe) sponsored study to analyse the mode of action of cladribine in human cells.

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. 1. Helsinki University Hospital EVO-grants TYH2017254, TYH2018231 and TYH2019258.

    Research Support, Foundations and Societies:

    1. Sigrid Juselius Foundation grant 2018-2020.

    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 Neurology (H.L., K.K., P.J.T.), Helsinki University Hospital; Translational Immunology (H.L., L.J., K.K., P.J.T.), Research Programs Unit, University of Helsinki; Department of Psychology and Logopedics (J.L.), University of Helsinki, Finland; and Neuromuscular Diseases Research Section (B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD.
  1. Correspondence
    Dr. Laaksovirta hannu.laaksovirta{at}hus.fi
View Full Text

Article usage

Article usage: March 2022 to March 2023

AbstractFullPdfSource
Mar 20227600120Highwire
Apr 2022109102786Highwire
May 202219525059Highwire
Jun 202220517438Highwire
Jul 202222920133Highwire
Aug 20229614323Highwire
Sep 20225511113Highwire
Oct 2022911523Highwire
Nov 20221115044Highwire
Dec 2022117827Highwire
Jan 2023147919Highwire
Feb 202366015Highwire

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

Related Articles

  • No related articles found.

Topics Discussed

Alert Me