ArticleNeurology. Genetics2020
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.
Abstract read
In one paragraph
Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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.
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.
Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Effects of glucocerebrosidase gene variations on the risk of Parkinson's disease dementia: a meta-analysis.Frontiers in aging neuroscience · 2025Pooled it
- Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study.Molecular genetics and metabolism reports · 2026Article
- Sex-Specific Association of Rasagiline with Motor Progression inLife (Basel, Switzerland) · 2026Article
- Progression ofFrontiers in aging neuroscience · 2026Article
- Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.NPJ Parkinson's disease · 2025Article
- Update on the Present and Future Pharmacologic Treatment of Parkinson's Disease.Neurology and therapy · 2025Review
- Synaptic vesicle endocytosis deficits underlie cognitive dysfunction in mouse models of GBA-linked Parkinson's disease and dementia with Lewy bodies.Nature communications · 2025Article
- Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.NPJ Parkinson's disease · 2025Article
- Genetics Influences Telomere Length in Parkinson's Disease: A Study in Monozygotic Discordant Twins.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Stearoyl-CoA desaturase inhibition normalizes brain lipid saturation, α-synuclein homeostasis, and motor function in mutant Gba1-Parkinson mice.JCI insight · 2025Article
- Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa-Carbidopa Intestinal Gel: A Nation-Wide, Multicenter, Longitudinal, "Real-World" Study. The EPIC Study.European journal of neurology · 2025Article
- Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.NPJ Parkinson's disease · 2025Article
- Male sex accelerates cognitive decline in GBA1 Parkinson's disease.NPJ Parkinson's disease · 2025Article
- The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.Neurogenetics · 2025Article
- Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024Review
- Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Gaucher disease provides a unique window into Parkinson disease pathogenesis.Nature reviews. Neurology · 2024Review
- A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment.Acta neurologica Belgica · 2024Review
Corrections and comments
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Authors and funding
14 authors.
Letizia StranieroDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0002-1733-7561
Rosanna AsseltaDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0001-5351-0619
Salvatore BonvegnaDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.
Valeria RimoldiDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0002-5598-3986
Giada MelistaccioDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.
Giulia SoldàDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0003-0972-610X
Massimo AureliDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0003-1916-2440
Matteo Della PortaDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0002-6915-5970
Ugo LuccaDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.
Alessio Di FonzoDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0001-6478-026X
Anna ZecchinelliDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.
Gianni PezzoliDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0003-4665-6710
Roberto CiliaDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0002-1990-1939
Stefano DugaDepartment of Biomedical Sciences (L.S., R.A., V.R., G.M., G.S., M.D.P., S.D.), Humanitas University; Humanitas Clinical and Research Center (R.A., V.R., G.S., M.D.P., S.D.), IRCCS, Rozzano; Fondazione Grigioni per il Morbo di Parkinson (S.B., A.Z., G.P.); Parkinson Institute (S.B., A.Z., G.P., R.C.), ASST "Gaetano Pini-CTO"; Department of Medical Biotechnology and Translational Medicine (M.A.), University of Milan; Laboratory of Geriatric Neuropsychiatry (U.L.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico (A.D.F.), Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan; and Fondazione IRCCS Istituto Neurologico "Carlo Besta" (R.C.), Milan, Italy.ORCID 0000-0003-3457-1410
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo provide a variant-specific estimate of incidence, penetrance, sex distribution, and association with dementia of the 4 most common Parkinson disease (PD)-associated
methodsThe p.E326K, p.T369M, p.N370S, and p.L444P variants were screened using an allele-specific multiplexed PCR approach. All statistical procedures were performed using R or Plink v1.07.
resultsAmong the 4 analyzed variants, the p.L444P confirmed to be the most strongly associated with disease risk for PD, PD dementia (PDD), and dementia with Lewy bodies (DLB) (odds ratio [OR] for PD 15.63, 95% confidence interval [CI] = 8.04-30.37,
conclusionsWe report a large monocentric study on
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