Evidence map›Paper›PMID 32073681›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2020

Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study.

Tanya Simuni, Michael C Brumm, Liz Uribe, Chelsea Caspell-Garcia, Christopher S Coffey, Andrew Siderowf, Roy N Alcalay, John Q Trojanowski, Leslie M Shaw, John Seibyl and 17 more

Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01141023 (The Parkinson's Progression Markers Initiative), which is not on this map. Cited by 49 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 4 pooled it
4.5field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT01141023 phase2completednot on this map

The Parkinson's Progression Markers Initiative (PPMI)

TypeinterventionalSponsorKen Marek, MDRan2010 to 2020Enrolled952ConditionsParkinson DiseaseArmsDaTscan
3 · Its place in the literature

Who cites it

49 citing papers in PubMed, 4 syntheses or guidelines pooled it, 78 citations in OpenAlex.

  1. Pooled it
  2. Neuroimaging in Glucocerebrosidase-Associated Parkinsonism: A Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2022
    Pooled it
  3. Pooled it
  4. Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Pooled it
  5. Article
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  7. Review
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  10. Review
  11. Article
  12. LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026
    Review
  13. Is GBA1 mutation status a game-changer for impulse control behaviour in Parkinson's disease?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  14. Article
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  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 16 institutions in 3 countries.

Tanya SimuniDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.ORCID 0000-0002-2347-1644
Michael C BrummDepartment of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.ORCID 0000-0002-3173-9989
Liz UribeDepartment of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.ORCID 0000-0002-5493-6619
Chelsea Caspell-GarciaDepartment of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.ORCID 0000-0002-0933-1039
Christopher S CoffeyDepartment of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.ORCID 0000-0003-1193-2041
Andrew SiderowfDepartments of Neurology Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Roy N AlcalayDepartment of Neurology, The Taub Institite for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA.ORCID 0000-0002-5717-4875
John Q TrojanowskiDepartments of Pathology and Laboratory Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-9239-8794
Leslie M ShawDepartments of Pathology and Laboratory Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
John SeibylInstitute for Neurodegenerative Disorders, New Haven, Connecticut, USA.ORCID 0000-0002-4917-5413
Andrew SingletonLaboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland, USA.ORCID 0000-0001-5606-700X
Arthur W TogaLaboratory of Neuroimaging (LONI), University of Southern California, Los Angeles, California, USA.ORCID 0000-0001-7902-3755
Doug GalaskoDepartment of Neurology, University of California, San Diego, California, USA.
Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, USA.ORCID 0000-0002-5549-2212
Kelly NudelmanDepartment of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, USA.ORCID 0000-0003-4040-1717
Duygu Tosun-TurgutDepartment of Neurology, University of California San Francisco, San Francisco, California, USA.ORCID 0000-0001-8644-7724
Kathleen PostonDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, California, USA.ORCID 0000-0003-3424-7143
Daniel WeintraubDepartments of Psychiatry and Neurology Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-0633-7168
Brit MollenhauerDepartment of Neurology, University Medical Center Goettingen, Goettingen, Germany and Paracelsus-Elena-Klinik, Kassel, Germany.ORCID 0000-0001-8437-3645
Caroline M TannerDepartment of Neurology, University of California San Francisco, San Francisco, California, USA.ORCID 0000-0002-3775-5082
Karl KieburtzDepartment of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
Lana M ChahineDepartment of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0003-2521-7196
Alyssa ReimerThe Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.ORCID 0000-0002-7023-6145
Samantha HuttenThe Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.
Susan BressmanIcahn School of Medicine, Mount Sinai, New York, New York, USA.ORCID 0000-0002-3513-8048
Kenneth MarekInstitute for Neurodegenerative Disorders, New Haven, Connecticut, USA.ORCID 0000-0002-4197-5627
Parkinson's Progression Markers Initiative Investigators
University of Iowa · USUniversity of Pennsylvania · USIndiana University Indianapolis · USInstitute for Neurodegenerative Disorders · USMichael J. Fox Foundation · USUniversity of California, San Francisco · USColumbia University · USIcahn School of Medicine at Mount Sinai · USNational Institute on Aging · USNorthwestern University · USParacelsus Elena Klinik Kassel · DEStanford University · USUniversity of California San Diego · USUniversity of Pittsburgh · USUniversity of Rochester Medical Center · USUniversity of Southern California · US

Funding

Project IV "Tackling Heterogeneity of Cognitive Trajectory in LBD"U19AG062418 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LEE, VIRGINIA M · 2019 to 2023
$18.1M
NIA NIH HHS U19 AG062418
6 · The paper itself

Abstract

backgroundThere are limited data on the phenotypic and dopamine transporter (DAT) imaging characterization of the Parkinson's disease (PD) patients with leucine rich kinase 2 (LRRK2) and glucosylceramidase beta (GBA) mutations.

objectiveThe objective of this study was to examine baseline clinical and DAT imaging characteristics in GBA and LRRK2 mutation carriers with early PD compared with sporadic PD.

methodsThe Parkinson's Progression Markers Initiative is an ongoing observational longitudinal study that enrolled participants with sporadic PD, LRRK2 and GBA PD carriers from 33 sites worldwide. All participants are assessed annually with a battery of motor and nonmotor scales, 123-I Ioflupane DAT imaging, and biologic variables.

resultsWe assessed 158 LRRK2 (89% G2019S), 80 GBA (89 %N370S), and 361 sporadic PD participants with the mean (standard deviation) disease duration of 2.9 (1.9), 3.1 (2.0), and 2.6 (0.6) years, respectively. When compared with sporadic PD, the GBA PD patients had no difference in any motor, cognitive, or autonomic features. The LRRK2 PD patients had less motor disability and lower rapid eye movement behavior disorder questionnaire scores, but no meaningful difference in cognitive or autonomic features. Both genetic cohorts had a higher score on the impulse control disorders scale when compared with sporadic PD, but no difference in other psychiatric features. Both genetic PD cohorts had less loss of dopamine transporter on DAT imaging when compared with sporadic PD.

conclusionsWe confirm previous reports of milder phenotype associated with LRRK2-PD. A previously reported more aggressive phenotype in GBA-PD is not evident early in the disease in N370s carriers. This observation identifies a window for potential disease-modifying interventions. Longitudinal data will be essential to define the slope of progression for both genetic cohorts.

trial registrationClinicalTrials.gov (NCT01141023). © 2020 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Motor DisordersParkinson DiseasePersons with DisabilitiesCross-Sectional StudiesDopamine Plasma Membrane Transport ProteinsGlucosylceramidaseHumansLeucineLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Longitudinal StudiesMutationDopamine Plasma Membrane Transport ProteinsGlucosylceramidaseLeucineLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humangeneticsParkinson's disease

Identifiers

PMID32073681
PMCPMC7231646
OpenAlexW3008708218

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.