Evidence map›Paper›PMID 40701123›Full record

ArticleParkinsonism & related disorders2025

Stable two-year longitudinal clinical outcomes in LRRK2 G2019S non-manifest carriers in a remote nationwide study.

William Barbosa, Peggy Auinger, Meghan Pawlik, Emily Hartman, Saloni Sharma, Blanca Y Valdovinos, Renee Wilson, Lucy Norcliffe-Kaufmann, Helen Rowbotham, Roy N Alcalay and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Parkinsonism & related disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

William BarbosaDepartment of Neurology, University of Rochester Medical Center, NY, USA.
Peggy AuingerDepartment of Neurology, University of Rochester Medical Center, NY, USA; Center for Health + Technology, University of Rochester Medical Center, NY, USA.
Meghan PawlikCenter for Health + Technology, University of Rochester Medical Center, NY, USA.
Emily HartmanCenter for Health + Technology, University of Rochester Medical Center, NY, USA.
Saloni SharmaCenter for Health + Technology, University of Rochester Medical Center, NY, USA.
Blanca Y ValdovinosDepartment of Neurology, University of Rochester Medical Center, NY, USA.
Renee WilsonCenter for Health + Technology, University of Rochester Medical Center, NY, USA.
Lucy Norcliffe-Kaufmann23andMe, Inc., Sunnyvale, CA, USA.
Helen Rowbotham23andMe, Inc., Sunnyvale, CA, USA.
Roy N AlcalayDepartment of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Neurology, Columbia University Irving Medical Center, NY, USA.
Kevin BiglanDepartment of Neurology, University of Rochester Medical Center, NY, USA; Eli Lilly and Company, Indianapolis, IN, USA.
Daniel KinelDepartment of Neurology, University of Rochester Medical Center, NY, USA; Center for Health + Technology, University of Rochester Medical Center, NY, USA.
Caroline M TannerWeill Institute for Neurosciences, Department of Neurology, University of California San Francisco, CA, USA.
Robert G HollowayDepartment of Neurology, University of Rochester Medical Center, NY, USA; Center for Health + Technology, University of Rochester Medical Center, NY, USA.
E Ray DorseyDepartment of Neurology, University of Rochester Medical Center, NY, USA; Center for Health + Technology, University of Rochester Medical Center, NY, USA.
Ruth B SchneiderDepartment of Neurology, University of Rochester Medical Center, NY, USA; Center for Health + Technology, University of Rochester Medical Center, NY, USA. Electronic address: ruth_schneider@urmc.rochester.edu.

Funding

The Clinical Core will support in-person and virtual research visits for three of the four Research Projects at the University of Rochester Udall CenterP50NS108676 · NINDS · UNIVERSITY OF ROCHESTER · PI DORSEY, EARL RAY · 2018 to 2022
$9.2M
NINDS NIH HHS P50 NS108676
6 · The paper itself

Abstract

backgroundInterest in Parkinson's disease (PD) prevention trials is growing, and genetically at-risk individuals may be ideal candidates. LRRK2 G2019S is the most common autosomal dominant genetic cause of PD and exhibits incomplete penetrance.

objectiveIn a remote, prospective cohort study of LRRK2 G2019S carriers without PD, we examined change over time to better understand the natural history of LRRK2 PD.

methodsClinical measures completed during annual video visits included the Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS parts I-III), Scales for Outcomes in Parkinson's Disease-Autonomic (SCOPA-AUT), Epworth Sleepiness Scale (ESS), REM Sleep Behavior Disorder Screening Questionnaire (RBDSQ), Beck Depression Inventory-II (BDI-II), Parkinson Anxiety Scale (PAS), and Montreal Cognitive Assessment (MoCA). To examine change from baseline to year two, we performed mixed model repeated measures analysis. To compare change over two years between different subgroups, we used generalized estimating equations.

resultsWe enrolled 211 LRRK2 G2019S carriers without PD, of whom 201 (mean (standard deviation) 53.9 (14.9) years of age, 119 (59 %) women, 151 (75 %) Ashkenazi Jewish) contributed longitudinal data. Over two years, mean change ± standard error (effect size) for the MoCA was 0.71 ± 0.12 (0.43), MDS-UPDRS part II 0.07 ± 0.15 (0.03), MDS-UPDRS part III 0.17 ± 0.19 (0.06), SCOPA-AUT -0.50 ± 0.27 (0.13), ESS -0.27 ± 0.15 (0.13), RBDSQ -0.32 ± 0.13 (0.18), BDI-II -0.11 ± 0.32 (0.02), and PAS -0.94 ± 0.29 (0.22).

conclusionRemotely administered motor, sleep, and autonomic measures were stable over two years. We need more sensitive measures of disease progression (e.g., biomarkers) and a better understanding of predictors of development of clinically manifest LRRK2 PD.

Indexed as

Disease ProgressionLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Parkinson DiseaseREM Sleep Behavior DisorderAdultAgedFemaleHeterozygoteHumansLongitudinal StudiesMaleMiddle AgedProspective StudiesLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanDecentralizedGenetic testingLRRK2Parkinson's diseaseTelemedicine

Identifiers

PMID40701123
PMCPMC12403045

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.