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April 2022; 8 (2) ArticleOpen Access

Clinical Deep Phenotyping of ABCA7 Mutation Carriers

Alana S. Campbell, Charlotte C.G. Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R. Oatman, Morgane Corda, Olivia Conway, Samantha Strickland, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Nilüfer Ertekin-Taner
First published January 13, 2022, DOI: https://doi.org/10.1212/NXG.0000000000000655
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Article Information

vol. 8 no. 2 e655
DOI: 
https://doi.org/10.1212/NXG.0000000000000655
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received August 6, 2021
  • Accepted in final form December 17, 2021
  • First Published January 13, 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. Alana S. Campbell, DO (ajs2238{at}att.net),
    2. Charlotte C.G. Ho, BS (charlotte.ho{at}hotmail.com),
    3. Merve Atık, MD (atik.merve{at}mayo.edu),
    4. Mariet Allen, PhD (allen.mariet{at}mayo.edu),
    5. Sarah Lincoln, BS (lincoln.sarah{at}mayo.edu),
    6. Kimberly Malphrus, BS (kim5157{at}aol.com),
    7. Thuy Nguyen, BS (nguyen.thuy2{at}mayo.edu),
    8. Stephanie R. Oatman, BS (oatman.stephanie{at}mayo.edu),
    9. Morgane Corda, MS (cordamorgane{at}yahoo.fr),
    10. Olivia Conway, MS (oc312{at}medschl.cam.ac.uk),
    11. Samantha Strickland, PhD (sunnysam919{at}yahoo.com),
    12. Ronald C. Petersen, MD (peter8{at}mayo.edu),
    13. Dennis W. Dickson, MD (dickson.dennis{at}mayo.edu),
    14. Neill R. Graff-Radford, MD (graffradford.neill{at}mayo.edu) and
    15. Nilüfer Ertekin-Taner, MD, PhD
  1. Alana S. Campbell, DO (ajs2238{at}att.net),
    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. Charlotte C.G. Ho, BS (charlotte.ho{at}hotmail.com),
  3. Merve Atık, MD (atik.merve{at}mayo.edu),
    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. Mariet Allen, PhD (allen.mariet{at}mayo.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. NIH, R01 AG061796, co-investigator; NIH, U01 AG046139, co- investigator, NIH, RF1 AG51504, co-investigator

    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. Sarah Lincoln, BS (lincoln.sarah{at}mayo.edu),
    6. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. Case No. Technology Title Innovators Disclosure Date Lic Mgr Technology Status Technology Type Licensing Status 2004-185 Identification of Mutations in PARK8, a Locus for Familial Parkinson's Disease Matthew J. Farrer Ph.D. Jennifer M. Kachergus Sarah J. Lincoln Mary M. Hulihan Zbigniew K. Wszolek M.D. Ryan J. Uitti M.D. 07/28/04 Susan L. Stoddard Ph.D. Active Diagnostic Licensed -> Non-Exclusive 2007-016 Transgenic Mouse Expressing P1 Artificial Chromosome (PAC) Containing the Entire Human Alpha- Synuclein (SNCA) Gene Matthew J. Farrer Ph.D. Heather L. Melrose Ph.D. Sarah J. Lincoln 01/24/07 Susan L. Stoddard Ph.D. Active Research Tool/Method Licensed -> Non-Exclusive 2007-027 LRRK2 BAC Transgenic Mice: A Model of Parkinsonism Heather L. Melrose Ph.D. Matthew J. Farrer Ph.D. Sarah J. Lincoln 01/31/07 Susan L. Stoddard Ph.D. Active Research Tool/Method Nonlicensed 2007-288 LRRK2 Knock Out Mice Heather L. Melrose Ph.D. Matthew J. Farrer Ph.D. Sarah J. Lincoln 11/19/07 Susan L. Stoddard Ph.D. Active Research Tool/Method Nonlicensed 2007-330 iLRRK2 Wild-Type and Mutant (G2019S) Transgenic Mice Jada M. Lewis Ph.D. Matthew J. Farrer Ph.D. Sarah J. Lincoln Charles A. Wuertzer Ph.D. 12/18/07 Susan L. Stoddard Ph.D. Active Research Tool/Method Nonlicensed

    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. H. Lundbeck A/S H. Lundbeck A/S Merck Sharp & Dohme Corp.

    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. Kimberly Malphrus, BS (kim5157{at}aol.com),
    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. Thuy Nguyen, BS (nguyen.thuy2{at}mayo.edu),
    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

  8. Stephanie R. Oatman, BS (oatman.stephanie{at}mayo.edu),
    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. Morgane Corda, MS (cordamorgane{at}yahoo.fr),
    10. 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

  10. Olivia Conway, MS (oc312{at}medschl.cam.ac.uk),
    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. Samantha Strickland, PhD (sunnysam919{at}yahoo.com),
    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

  12. Ronald C. Petersen, MD (peter8{at}mayo.edu),
    13. Scientific Advisory Boards:

    1. Genentech - DSMB

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. Mild Cognitive Impairment,Oxford University Press, 2003 UpToDate

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. (1) Roche, (2) Biogen, (3), Eisai, (4) Merck, (5) Nestle (As noted in question 1, DSMB for Genentech.)

    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. National Institute on Aging: U01-AG006786 (PI) (1986-present) P50-AG016574 (PI) (1990-2018) U01-AG024904 (Site PI) (2004-present) U24-AG057437) (Co-PI) (2018-present) P30 AG062677) (PI) 2019 - present) P30 AG062677 (2019 - present) U01NS 125417 (PI)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1) GHR Foundation, (2) Mayo Medical Foundation for Education and Research

    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

  13. Dennis W. Dickson, MD (dickson.dennis{at}mayo.edu),
    14. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Editorial board member: Acta Neuropathologica, Brain, Brain Pathology, Neuropathology and Applied Neurobiology, Annals of Neurology, Neuropathology; Editor: International Journal of Clinical and Experimental Pathology, American Journal of Neurodegenerative Disease.

    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. P30AG062677 (Core Leader); P01NS084974 (Co-Core Leader); P01AG003949 (Core Leader); UG3NS104095 (Co-Leader); U54NS100693 (Core Leader); R01AG054449 (Co- Investigator); U54NS110435 (Co-Leader)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Mangurian Foundation; Rainwater Charitable 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

  14. Neill R. Graff-Radford, MD (graffradford.neill{at}mayo.edu) and
    15. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Alzheimer Disease and Therapy, Editorial Board

    Patents:

    1. NONE

    Publishing Royalties:

    1. I received royalties for an article in UpToDate

    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. (1)Novartis multicenter study (2) Lilly multicenter study (3) Biogen multicenter study (4)AbbVie multicenter study

    Research Support, Government Entities:

    1. (1) NIA P50AG16574 coinvestigator ADRC; (2) NIA U24AG26395 Site PI LOAD study; (3) NIA U01AG24904 Site PI ADNI; (4) NIA R01AG06656 Coinvestigator

    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

  15. Nilüfer Ertekin-Taner, MD, PhD
    16. Scientific Advisory Boards:

    1. Framingham Heart Study Executive Committee Member; NIH TREAT-AD Consortium External Advisory Board Member

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. Editorial Board Member for American Journal of Neurodegenerative Disease, Alzheimers&Dementia.

    Patents:

    1. Human Monoclonal Antibodies Against Amyloid Beta Protein, and Their Use as Therapeutic Agents Application (pending).

    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) National Institutes of Health [R01 NS080820], PI, 2013- 2018. 2) National Institutes of Health [U01AG046139], MPI, 2018- 2023 3) National Institutes of Health [RF1 AG051504], MPI, 2015-2020. 4) National Institutes of Health [R01 AG061796], PI, 2018- 2023]

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. 1) Florida Health Ed and Ethel Moore Alzheimer’s Disease Research Program Grant, PI, 2017-2019

    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 (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
  1. Correspondence
    Dr. Ertekin-Taner taner.nilufer{at}mayo.edu

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