Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Dec 2021
Historique:
received: 16 02 2021
revised: 25 05 2021
accepted: 03 08 2021
entrez: 27 10 2022
pubmed: 28 10 2022
medline: 28 10 2022
Statut: epublish

Résumé

We investigated the prevalence of late-onset Pompe disease (LOPD) in patients presenting to 13 academic, tertiary neuromuscular practices in the United States and Canada. All successive patients presenting with proximal muscle weakness or isolated hyperCKemia and/or neck muscle weakness to these 13 centers were invited to participate in the study. Whole blood was tested for acid alpha-glucosidase (GAA) assay through the fluorometric method, and all cases with enzyme levels of ≤10 pmoL/punch/h were reflexed to molecular testing for mutations in the GAA gene. Clinical and demographic information was abstracted from their clinical visit and, along with study data, entered into a purpose-built REDCap database, and analyzed at the University of California, Irvine. GAA enzyme assay results were available on 906 of the 921 participants who consented for the study. LOPD was confirmed in 9 participants (1% prevalence). Another 9 (1%) were determined to have pseudodeficiency of GAA, whereas 19 (1.9%) were found to be heterozygous for a pathogenic GAA mutation (carriers). Of the definite LOPD participants, 8 (89%) were Caucasian and were heterozygous for the common leaky (IVS1) splice site mutation in the GAA gene (c -32-13T>G), with a second mutation that was previously confirmed to be pathogenic. The prevalence of LOPD in undiagnosed patients meeting the criteria of proximal muscle weakness, high creatine kinase, and/or neck weakness in academic, tertiary neuromuscular practices in the United States and Canada is estimated to be 1%, with an equal prevalence rate of pseudodeficiency alleles. Clinical trial registration number: NCT02838368.

Sections du résumé

Background and Objectives UNASSIGNED
We investigated the prevalence of late-onset Pompe disease (LOPD) in patients presenting to 13 academic, tertiary neuromuscular practices in the United States and Canada.
Methods UNASSIGNED
All successive patients presenting with proximal muscle weakness or isolated hyperCKemia and/or neck muscle weakness to these 13 centers were invited to participate in the study. Whole blood was tested for acid alpha-glucosidase (GAA) assay through the fluorometric method, and all cases with enzyme levels of ≤10 pmoL/punch/h were reflexed to molecular testing for mutations in the GAA gene. Clinical and demographic information was abstracted from their clinical visit and, along with study data, entered into a purpose-built REDCap database, and analyzed at the University of California, Irvine.
Results UNASSIGNED
GAA enzyme assay results were available on 906 of the 921 participants who consented for the study. LOPD was confirmed in 9 participants (1% prevalence). Another 9 (1%) were determined to have pseudodeficiency of GAA, whereas 19 (1.9%) were found to be heterozygous for a pathogenic GAA mutation (carriers). Of the definite LOPD participants, 8 (89%) were Caucasian and were heterozygous for the common leaky (IVS1) splice site mutation in the GAA gene (c -32-13T>G), with a second mutation that was previously confirmed to be pathogenic.
Discussion UNASSIGNED
The prevalence of LOPD in undiagnosed patients meeting the criteria of proximal muscle weakness, high creatine kinase, and/or neck weakness in academic, tertiary neuromuscular practices in the United States and Canada is estimated to be 1%, with an equal prevalence rate of pseudodeficiency alleles.
Trial Registration Information UNASSIGNED
Clinical trial registration number: NCT02838368.

Identifiants

DOI: 10.1212/NXG.0000000000000623 PMID: 36299500 PMC: PMC9595038
pubmed: 36299500
doi: 10.1212/NXG.0000000000000623
pii: NG2021016977
pmc: PMC9595038
doi:

Banques de données

ClinicalTrials.gov
['NCT02838368']

Types de publication

Journal Article

Langues

eng

Pagination

e623

Informations de copyright

Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Marie Wencel (M)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Aziz Shaibani (A)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Namita A Goyal (NA)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Mazen M Dimachkie (MM)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.
ORCID: 0000-0002-7148-989X

Jaya Trivedi (J)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Nicholas E Johnson (NE)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Laurie Gutmann (L)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.
ORCID: 0000-0003-3926-4209

Matthew P Wicklund (MP)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Sankar Bandyopadhay (S)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Angela L Genge (AL)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Miriam L Freimer (ML)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Neelam Goyal (N)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Alan Pestronk (A)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.
ORCID: 0000-0002-8991-5770

Julaine Florence (J)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Chafic Karam (C)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Jeffrey W Ralph (JW)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Zinah Rasheed (Z)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Melissa Hays (M)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Steve Hopkins (S)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Tahseen Mozaffar (T)

Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.
ORCID: 0000-0002-1230-0188

Classifications MeSH