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April 2021; 7 (2) Clinical/Scientific NotesOpen Access

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

Giacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, Paolo Vezzulli, Simone Guerrieri, Marta Radaelli, Filippo Martinelli Boneschi, Massimo Filippi, Francesca Maltecca, Maria Teresa Bassi, Marina Scarlato
First published March 9, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000573
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Article Information

vol. 7 no. 2 e573
DOI: 
https://doi.org/10.1212/NXG.0000000000000573
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received September 29, 2020
  • Accepted in final form January 12, 2021
  • First Published March 9, 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. Giacomo Sferruzza, MD (sferruzza.giacomo{at}hsr.it),
    2. Andrea Del Bondio, PhD (delbondio.andrea{at}hsr.it),
    3. Andrea Citterio, PhD (andrea.citterio{at}bp.lnf.it),
    4. Paolo Vezzulli, MD (vezzulli.paolo{at}hsr.it),
    5. Simone Guerrieri, MD (guerrieri.simone{at}hsr.it),
    6. Marta Radaelli, MD, PhD (mradaelli{at}asst-pg23.it),
    7. Filippo Martinelli Boneschi, MD, PhD (filippo.martinelli{at}unimi.it),
    8. Massimo Filippi, MD, PhD (filippi.massimo{at}hsr.it),
    9. Francesca Maltecca, PhD (maltecca.francesca{at}hsr.it),
    10. Maria Teresa Bassi, PhD (mariateresa.bassi{at}lanostrafamiglia.it) and
    11. Marina Scarlato, MD, PhD
  1. Giacomo Sferruzza, MD (sferruzza.giacomo{at}hsr.it),
    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. Andrea Del Bondio, PhD (delbondio.andrea{at}hsr.it),
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Travel bursary to attend International Ataxia Research Conference 2019 (Washington DC, November 2019), wire transfer

    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. 2-years research fellowship from Fondazione Centro San Raffaele

    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. Andrea Citterio, PhD (andrea.citterio{at}bp.lnf.it),
    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. Paolo Vezzulli, MD (vezzulli.paolo{at}hsr.it),
    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. Simone Guerrieri, MD (guerrieri.simone{at}hsr.it),
    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. Marta Radaelli, MD, PhD (mradaelli{at}asst-pg23.it),
    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. Filippo Martinelli Boneschi, MD, PhD (filippo.martinelli{at}unimi.it),
    8. Scientific Advisory Boards:

    1. Sanofi Genzyme, Merck-Serono, Roche Teva Pharmaceutical Industries,

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Roche Teva Pharmaceutical Industries, Merck-Serono, Biogen Idec

    Editorial Boards:

    1. Almirall

    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. Merck-Serono

    Research Support, Government Entities:

    1. Italian Ministry of Health

    Research Support, Academic Entities:

    1. European Union

    Research Support, Foundations and Societies:

    1. Fondazione Italiana Sclerosi Multipla and Fondazione Cariplo

    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. Massimo Filippi, MD, PhD (filippi.massimo{at}hsr.it),
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Bayer, Biogen Idec, Merck-Serono, Novartis, Roche, Sanofi Genzyme, Takeda, and Teva Pharmaceutical Industries

    Editorial Boards:

    1. Editor-in-Chief (2012-present), Journal of Neurology; Associate Editor, Neurological Sciences (2016-present); Associate Editor, Human Brain Mapping (since 2020)

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Biogen Idec, Merck-Serono, Novartis

    Speakers' Bureaus:

    1. Bayer, Biogen Idec, Merck-Serono, Novartis, Roche, Sanofi Genzyme, Takeda, and Teva Pharmaceutical Industries

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1) Commercial entity: Bayer 2) Commercial entity: Biogen-Idec 3) Commercial entity: Merck-Serono 4) Commercial entity: Novartis 5) Commercial entity: Roche 6) Commercial entity: Teva Pharmaceutical Industries

    Research Support, Government Entities:

    1. 1) Italian Ministry of Health; grant number: GR-2013- 02357415; role: co-investigator; duration: September 2016-December 2020 2) Italian Ministry of Health; grant number: RF-2018- 12366746; role: PI; duration: 15/06/2020 – 14/06/2023

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. 1) Fondazione Italiana Sclerosi Multipla (FISM) 2) ARiSLA (Fondazione Italiana di Ricerca per la SLA)

    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. Francesca Maltecca, PhD (maltecca.francesca{at}hsr.it),
    10. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Travel expenses as invited speaker for ARCA GLOBAL meeting, Denver (US), March 2020. Wire transfer to the travel agency.

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. Maltecca F, Casari G. In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. Methods Mol Biol. 2010;648:257-67. doi: 10.1007/978-1-60761-756-3_17. Springer Nature.

    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. National Ataxia Foundation, Minneapolis, US, 03/01/2020. “Targeting altered proteostasis in cellular and mouse models of AFG3L2-related cerebellar ataxias (SCA28 and SPAX5)”. Role: PI Ataxia Charlevoix-Saguenay Foundation, Montréal, CA 10/01/2019. “Targeting deregulated calcium homeostasis as potential therapeutic option for ARSACS”. Role: 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

  10. Maria Teresa Bassi, PhD (mariateresa.bassi{at}lanostrafamiglia.it) 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. Marina Scarlato, MD, PhD
    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

  1. From the Department of Neurology (G.S., S.G., M.F., M.S.), and Mitochondrial Dysfunctions in Neurodegeneration Unit (A.D.B., F.M.), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan; Laboratory of Molecular Biology (A.C., M.T.B.), Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco; Department of Neuroradiology (P.V.), IRCCS San Raffaele Scientific Institute, Milan; Department of Neurology (M.R.), Papa Giovanni XXIII, Bergamo; Dino Ferrari Centre (F.M.B.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan; and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (F.M.B.), Neurology Unit and Multiple Sclerosis Center, Milan, Italy.
  1. Correspondence
    Dr. Scarlato scarlato.marina{at}hsr.it
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