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GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease
Mata IF, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, Ritz B, Rausch R et al.. Movement disorders : official journal of the Movement Disorder Society, 2015-08-21
Topic: Brain proteins, microglia and lab models
Background Loss-of-function mutations in the GBA gene are associated with more severe cognitive impairment in PD, but the nature of these deficits is not well understood and whether common GBA polymorphisms influence cognitive performance in PD is not yet known. Methods We screened the GBA coding region for mutations and the E326K polymorphism in 1,369 PD patients enrolled at eight sites from the PD Cognitive Genetics Consortium. Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised), working memory/executive function (Letter-Number Sequencing Test and Trail Making Test A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation), and global cognitive function (MoCA).
Key findings
- Methods We screened the GBA coding region for mutations and the E326K polymorphism in 1,369 PD patients enrolled at eight sites from the PD Cognitive Genetics Consortium.
- Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised), working memory/executive function (Letter-Number Sequencing Test and Trail Making Test A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation), and global cognitive function (MoCA).
- We used linear regression to test for association between genotype and cognitive performance with adjustment for important covariates and accounted for multiple testing using Bonferroni's corrections.
- Results Mutation carriers (n = 60; 4.4%) and E326K carriers (n = 65; 4.7%) had a higher prevalence of dementia (mutations, odds ratio = 5.1; P = 9.7 × 10(-6) ; E326K, odds ratio = 6.4; P = 5.7 × 10(-7) ) and lower performance on Letter-Number Sequencing (mutations, corrected P[Pc ] = 9.0 × 10(-4) ; E326K, Pc = 0.036), Trail Making B-A (mutations, Pc = 0.018; E326K, Pc = 0.018), and Benton Judgment of Line Orientation (mutations, Pc = 0.0045; E326K, Pc = 0.0013).
Why it matters
In 1,369 people with Parkinson's disease, GBA mutations and the E326K polymorphism were linked to a distinct pattern of cognitive deficits. This is a genetic association study and does not show any treatment, cure or prevention for Alzheimer's disease.
Study details
- Participants60
- Effect size4.4%; 4.7%
- Evidence strengthLow
How this study scored 56/100
Published in a peer-reviewed journal. Scored zero for study design and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Movement disorders : official journal of the Movement Disorder Society) |
| Journal's citation record | 3 / 4 | Movement Disorders: journal h-index 281 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2016 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 60 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 204 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 17.0 citations a year over 12 year(s) since 2016 |
| Impact for its field and year | 4 / 6 | Cited 14.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 11 other studies in this library |
| Still being cited | 2 / 4 | Cited 48 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Cyrus P. Zabetian: h-index 72 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | University of Washington: institution h-index 3,540 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 16 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 26296077) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 56 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Mata, I. F., Leverenz, J. B., Weintraub, D., Trojanowski, J. Q., Chen-Plotkin, A., Van Deerlin, V. M., et al. (2016). GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society. https://doi.org/10.1002/mds.26359
Vancouver
Mata IF, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, et al. GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society. 2016. doi:10.1002/mds.26359. PMID: 26296077.
BibTeX
@article{mata2016-26296077,
author = {Mata, I. F. and Leverenz, J. B. and Weintraub, D. and Trojanowski, J. Q. and Chen-Plotkin, A. and Van Deerlin, V. M. and Ritz, B. and Rausch, R. and others},
title = {{GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease}},
journal = {Movement disorders : official journal of the Movement Disorder Society},
year = {2016},
doi = {10.1002/mds.26359},
pmid = {26296077},
url = {https://doi.org/10.1002/mds.26359}
}
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