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Neurology Genetics
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October 2020; 6 (5) Clinical/Scientific NotesOpen Access

Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation

Kang-Yang Jih, Pei-Chien Tsai, Yu-Shuen Tsai, Yi-Chu Liao, View ORCID ProfileYi-Chung Lee
First published August 6, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000503
Kang-Yang Jih
From the Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Taipei Veterans General Hospital; Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Brain Research Center (Y.-C. Liao, Y.-C. Lee), and Center for Systems and Synthetic Biology (Y.-S.T.), National Yang-Ming University, Taipei; and Department of Life Sciences (P.-C.T.), National Chung Hsing University, Taichung, Taiwan.
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Pei-Chien Tsai
From the Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Taipei Veterans General Hospital; Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Brain Research Center (Y.-C. Liao, Y.-C. Lee), and Center for Systems and Synthetic Biology (Y.-S.T.), National Yang-Ming University, Taipei; and Department of Life Sciences (P.-C.T.), National Chung Hsing University, Taichung, Taiwan.
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Yu-Shuen Tsai
From the Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Taipei Veterans General Hospital; Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Brain Research Center (Y.-C. Liao, Y.-C. Lee), and Center for Systems and Synthetic Biology (Y.-S.T.), National Yang-Ming University, Taipei; and Department of Life Sciences (P.-C.T.), National Chung Hsing University, Taichung, Taiwan.
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Yi-Chu Liao
From the Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Taipei Veterans General Hospital; Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Brain Research Center (Y.-C. Liao, Y.-C. Lee), and Center for Systems and Synthetic Biology (Y.-S.T.), National Yang-Ming University, Taipei; and Department of Life Sciences (P.-C.T.), National Chung Hsing University, Taichung, Taiwan.
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Yi-Chung Lee
From the Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Taipei Veterans General Hospital; Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Brain Research Center (Y.-C. Liao, Y.-C. Lee), and Center for Systems and Synthetic Biology (Y.-S.T.), National Yang-Ming University, Taipei; and Department of Life Sciences (P.-C.T.), National Chung Hsing University, Taichung, Taiwan.
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Citation
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
Kang-Yang Jih, Pei-Chien Tsai, Yu-Shuen Tsai, Yi-Chu Liao, Yi-Chung Lee
Neurol Genet Oct 2020, 6 (5) e503; DOI: 10.1212/NXG.0000000000000503

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Article Information

vol. 6 no. 5 e503
DOI: 
https://doi.org/10.1212/NXG.0000000000000503

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received May 13, 2020
  • Accepted in final form July 7, 2020
  • First Published August 6, 2020.

Copyright & Usage: 
Copyright © 2020 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. Kang-Yang Jih, MD, PhD,
    2. Pei-Chien Tsai, PhD,
    3. Yu-Shuen Tsai, PhD,
    4. Yi-Chu Liao, MD, PhD and
    5. Yi-Chung Lee, MD, PhD
  1. Kang-Yang Jih, 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. 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. Pei-Chien Tsai, PhD,
  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. Yu-Shuen Tsai, 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. (1) Ministry of Science and Technology (R.O.C.), MOST 109-2740-B-010-002-, postdoctoral fellow, 2020/05/01-2021/04/30(2) Ministry of Science and Technology (R.O.C.), MOST 108-2319-B-010-001-, postdoctoral fellow, 2019/05/01-2020/04/30(3) Ministry of Science and Technology (R.O.C.), MOST 107-2319-B-010-002-, postdoctoral fellow, 2018/05/01-2019/04/30

    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. Yi-Chu Liao, MD, PhD and
  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. Yi-Chung Lee, MD, PhD
  10. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. (1) World Congress of Neurology 2017, speaker honoraria, USD$1000(2)The Asian Oceanian Congress of Neurology 2018, speaker honoraria, USD$800

    Editorial Boards:
    1. (1) Acta Neurologica Taiwanica, Acting Editor, 2012 till now

    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. (1) Ministry of Science and Technology, Taiwan, 105-2628-B-075 -002 -MY3, Principal investigator, 2016/8-2019/7(2) Ministry of Science and Technology, Taiwan, 107-2314-B-075 -014 -MY3, Principle investigator, 2018/8-2021/7(3)Ministry of Science and Technology, Taiwan, 108-2312-B-075-001,Principle investigator, 2019/1-2019/12(3)Ministry of Science and Technology, Taiwan, 109-2312-B-075-001,Principle investigator, 2020/1-2020/12

    Research Support, Foundations and Societies:
    1. Taiwan Motor Neuron Disease 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

  1. From the Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Taipei Veterans General Hospital; Department of Neurology (K.-Y.J., Y.-C. Liao, Y.-C. Lee), Brain Research Center (Y.-C. Liao, Y.-C. Lee), and Center for Systems and Synthetic Biology (Y.-S.T.), National Yang-Ming University, Taipei; and Department of Life Sciences (P.-C.T.), National Chung Hsing University, Taichung, Taiwan.
  1. Correspondence
    Dr. Lee ycli{at}vghtpe.gov.tw
View Full Text

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