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GBA-associated PD presents with nonmotor characteristics
Brockmann K, Srulijes K, Hauser AK, Schulte C, Csoti I, Gasser T, Berg D.. Neurology, 2011-07-06
Topic: Amyloid, tau and blood-test diagnosis
Objective To evaluate whether there exists distinct characteristics in glucocerebrosidase (GBA)-associated Parkinson disease (PD) with regard to motor and nonmotor symptoms as well as imaging characteristics assessed by transcranial sonography (TCS). Methods Twenty patients with PD with heterozygous GBA mutations (N370S, L444P) (GBA-PD) in comparison to 20 patients with sporadic PD negative for GBA mutations (sPD) were included. We assessed motor impairment with the Unified Parkinson's Disease Rating Scale-III. Nonmotor symptoms were evaluated using the Montreal Cognitive Assessment, Neuropsychiatric Inventory, revised form of the Beck Depression Inventory, Parkinson Disease Sleep Scale, Sniffin' Sticks, and Unified Multiple System Atrophy Rating Scale items 9-12. TCS imaging was used to detect morphologic characteristics. Results Patients with GBA-PD more often had a variety of nonmotor symptoms, namely dementia, neuropsychiatric disturbances, and autonomic dysfunction, and had more severe cases, than patients with sPD. They also demonstrated a higher prevalence of a reduced echogenicity of the brainstem raphe assessed by TCS. Conclusions Especially nonmotor symptoms seem to be very common in GBA-PD. Further studies are needed to validate these observations in order to better understand the pathogenesis of GBA-PD and develop specific therapeutic concepts.
Key findings
- Results Patients with GBA-PD more often had a variety of nonmotor symptoms, namely dementia, neuropsychiatric disturbances, and autonomic dysfunction, and had more severe cases, than patients with sPD.
- They also demonstrated a higher prevalence of a reduced echogenicity of the brainstem raphe assessed by TCS.
Why it matters
This small study found that patients with Parkinson disease carrying GBA mutations more often had nonmotor symptoms such as dementia, neuropsychiatric disturbances and autonomic dysfunction than patients with sporadic Parkinson disease. The authors state further studies are needed and report no treatment, cure or prevention for Alzheimer's disease.
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Study details
- Participants20
- Evidence strengthLow
How this study scored 53/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Neurology) |
| Journal's citation record | 4 / 4 | Neurology: journal h-index 525 (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 | 2011 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 20 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| 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 268 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 15.8 citations a year over 17 year(s) since 2011 |
| Impact for its field and year | 4 / 6 | Cited 8.9× 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 | 2 / 4 | Cited 45 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Daniela Berg: h-index 112 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Tübingen: institution h-index 940 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 21734182) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 53 / 100 | — |
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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 names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
APA 7th
Brockmann, K., Srulijes, K., Hauser, A. K., Schulte, C., Csoti, I., Gasser, T., et al. (2011). GBA-associated PD presents with nonmotor characteristics. Neurology. https://doi.org/10.1212/wnl.0b013e318225ab77
Vancouver
Brockmann K, Srulijes K, Hauser AK, Schulte C, Csoti I, Gasser T, et al. GBA-associated PD presents with nonmotor characteristics. Neurology. 2011. doi:10.1212/wnl.0b013e318225ab77. PMID: 21734182.
BibTeX
@article{brockmann2011-21734182,
author = {Brockmann, K. and Srulijes, K. and Hauser, A. K. and Schulte, C. and Csoti, I. and Gasser, T. and Berg, D.},
title = {{GBA-associated PD presents with nonmotor characteristics}},
journal = {Neurology},
year = {2011},
doi = {10.1212/wnl.0b013e318225ab77},
pmid = {21734182},
url = {https://doi.org/10.1212/wnl.0b013e318225ab77}
}
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