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February 2021; 7 (1) ArticleOpen Access

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7

Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari
First published December 29, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000544
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Article Information

vol. 7 no. 1 e544
DOI: 
https://doi.org/10.1212/NXG.0000000000000544
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received August 26, 2020
  • Accepted in final form October 22, 2020
  • First Published December 29, 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. Marvin Ziegler (marvin.ziegler{at}childrens.harvard.edu),
    2. Bianca E. Russell, MD (berussell{at}mednet.ucla.edu),
    3. Kathrin Eberhardt (eberhardt.kathrin{at}hotmail.de),
    4. Gregory Geisel, BS (gregory.geisel{at}childrens.harvard.edu),
    5. Angelica D'Amore, PhD (angelica.damore{at}childrens.harvard.edu),
    6. Mustafa Sahin, MD, PhD (mustafa.sahin{at}childrens.harvard.edu),
    7. Harley I. Kornblum, MD, PhD (hkornblum{at}mednet.ucla.edu) and
    8. Darius Ebrahimi-Fakhari, MD, PhD
  1. Marvin Ziegler (marvin.ziegler{at}childrens.harvard.edu),
    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. (1) German National Academic Foundation (2) German Academic Exchange Service (DAAD)

    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. Bianca E. Russell, MD (berussell{at}mednet.ucla.edu),
    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. 1. Bohring-Opitz Syndrome Foundation 2. ASXL Rare Research Endowment

    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. Kathrin Eberhardt (eberhardt.kathrin{at}hotmail.de),
    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. Gregory Geisel, BS (gregory.geisel{at}childrens.harvard.edu),
    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. Angelica D'Amore, PhD (angelica.damore{at}childrens.harvard.edu),
    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. University of Siena (Pegaso Scholarship)

    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. Mustafa Sahin, MD, PhD (mustafa.sahin{at}childrens.harvard.edu),
    7. Scientific Advisory Boards:

    1. 1) Sage Therapeutics: member of the Scientific Advisory Board 2) Takeda: member of the Scientific Advisory Board 3) Roche: member of Scientific Advisory Board

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. 1) Pediatric Neurology, Associate Editor, 2013-present

    Patents:

    1. 1) “USE OF HEAT SHOCK PROTEIN INHIBITORS FOR THE TREATMENT OF NEURODEVELOPMENTAL DISORDERS,” as set forth in U.S. Provisional Patent Application No.: 63/037,946, filed on June 11, 2020

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. 1) Celgene 2) Aeovian 3) Regenexbio

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Novartis (2) Roche (3) Pfizer (4) LAM Therapeutics (5) Neuren (6) Ibsen (7) Rugen (8) Quadrant Biosciences (9) Astellas (10) Bridgebio

    Research Support, Government Entities:

    1. 1) NIH 1U01NS082320-01 (Sahin, M., and Krueger D, P.I.s) 09/01/12 - 08/31/18 2) NIH 5U01NS092595 (Bebin, M., P.I. – Uni of Alabama at Birmingham) 07/01/15 -06/31/20 Sahin Role- co-investigator 3) NIH/NICHD U54HD090255(Pomeroy, PI) 09/29/11-6/30/16 Intellectual and Developmental Disabilities Research Center Sahin Role: Associate Director 4) NIH 5U54NS092090-04 (Sahin, M. PI) 09/30/14 - 07/31/19 Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. 1) Tuberous Sclerosis Alliance 2) Autism Speaks 3) Nancy Lurie Marks Foundation 4) PTEN Research 5) Simons 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

  7. Harley I. Kornblum, MD, PhD (hkornblum{at}mednet.ucla.edu) and
    8. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Molecular and Cellular Proteomics, Editorial Board member,0current,

    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. Darius Ebrahimi-Fakhari, MD, PhD
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Honorarium for speaking at the Movement Disorder International Congress in 2019.

    Editorial Boards:

    1. (1) Section editor: Neuropediatrics

    Patents:

    1. NONE

    Publishing Royalties:

    1. (1) Editor of Movement Disorders and Inherited Metabolic Disorders Recognition, Understanding, Improving Outcomes; Cambridge University Press; Online ISBN: 9781108556767

    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) CureAP4 Foundation (2) CureSPG50 Foundation (3) Spastic Paraplegia Foundation (4) Thrasher Research Fund

    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 and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.
  1. Correspondence
    Dr. Ebrahimi-Fakhari darius.ebrahimi-fakhari{at}childrens.harvard.edu
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