Home › Research › Lewy body dementia
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease
Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM et al.. JAMA neurology, 2015-01-01
Topic: Brain proteins, microglia and lab models
Importance Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with LRRK2 mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD. We investigated whether the presence or absence of LBs correlates with different clinical features in LRRK2-related PD. Observations We describe genetic, clinical, and neuropathological findings of 37 cases of LRRK2-related PD including 33 published and 4 unpublished cases through October 2013. Among the different mutations, the LRRK2 p.G2019S mutation was most frequently associated with LB pathology. Nonmotor features of cognitive impairment/dementia, anxiety, and orthostatic hypotension were correlated with the presence of LBs. In contrast, a primarily motor phenotype was associated with a lack of LBs. Conclusions and relevance To our knowledge, this is the first report of clinicopathological correlations in a series of LRRK2-related PD cases. Findings from this selected group of patients with PD demonstrated that parkinsonian motor features can occur in the absence of LBs. However, LB pathology in LRRK2-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Kalia, L. V., Lang, A. E., Hazrati, L. N., Fujioka, S., Wszolek, Z. K., Dickson, D. W., et al. (2015). Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. JAMA neurology. https://doi.org/10.1001/jamaneurol.2014.2704
Vancouver
Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, et al. Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. JAMA neurology. 2015. doi:10.1001/jamaneurol.2014.2704. PMID: 25401511.
BibTeX
@article{kalia2015-25401511,
author = {Kalia, L. V. and Lang, A. E. and Hazrati, L. N. and Fujioka, S. and Wszolek, Z. K. and Dickson, D. W. and Ross, O. A. and Van Deerlin, V. M. and others},
title = {{Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease}},
journal = {JAMA neurology},
year = {2015},
doi = {10.1001/jamaneurol.2014.2704},
pmid = {25401511},
url = {https://doi.org/10.1001/jamaneurol.2014.2704}
}
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.
Key findings
- However, some PD cases associated with LRRK2 mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD.
- Among the different mutations, the LRRK2 p.G2019S mutation was most frequently associated with LB pathology.
- In contrast, a primarily motor phenotype was associated with a lack of LBs.
- Findings from this selected group of patients with PD demonstrated that parkinsonian motor features can occur in the absence of LBs.
Why it matters
In 37 cases of LRRK2-related Parkinson disease, parkinsonian motor features occurred even without Lewy bodies, while cognitive impairment, anxiety, and orthostatic hypotension correlated with the presence of Lewy bodies. This clinicopathological correlation may help classify LRRK2-related Parkinson disease but does not report a treatment or cure.
Study details
- Evidence strengthLow
How this study scored 53/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (JAMA neurology) |
| Journal's citation record | 2 / 4 | JAMA Neurology: journal h-index 235 (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 | 2015 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 387 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 29.8 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 4 / 6 | Cited 11.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 3 other studies in this library |
| Still being cited | 3 / 4 | Cited 129 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Connie Marras: h-index 76 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Centre National de la Recherche Scientifique: institution h-index 2,511 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 27 institution(s) in 9 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25401511) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 53 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1001/jamaneurol.2014.2704
- PubMed: 25401511
- Original source →
- Free full text: JAMA Neurology →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Related
Studies in the library that share something with this one. The line above each title says what.
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Later studies that cite this one
3 studies in the alzhub library list this one in their references.
Related studies in Lewy body dementia
Also tagged “lewy”
1,017 studies in the library carry the topic tag “lewy”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 1,017 tagged studies.