Neuropsychiatric Features of GBA-Associated Parkinson Disease (P2.024)
Bibliographic record
Abstract
OBJECTIVE: To explore neuropsychiatric symptomatology in Parkinson disease (PD) associated with monoallelic glucocerebrosidase mutations. BACKGROUND: Mutations in the glucocerebrosidase gene, GBA1, are associated with Parkinson disease and dementia with Lewy bodies. Depression and anxiety have been reported as prominent features in PD associated with biallelic GBA mutation carriage(i.e., Gaucher disease). There is incomplete knowledge about the burden of these symptoms in monoallelic GBA-PD compared to IPD. DESIGN/METHODS: 14 GBA-PD and 52 GBA-negative, LRRK2-negative IPD participants ascertained from our center completed a battery of motor and non-motor assessments, including Unified Parkinson’s Disease Rating Scale(UPDRS), State Trait Anxiety Inventory(STAI), Beck Depression Inventory(BDI), and Montreal Cognitive Assessment(MoCA). STAI State(STAI-S) and Trait(STAI-T) subscales, MoCA and UPDRS were treated as continuous variables. Continuous and categorical scores were compared between groups. RESULTS: A greater proportion of GBA-PD were women(50% of GBA-PD vs. 26.9% of IPD;p=0.1) but the GBA-PD and IPD groups did not differ in age of onset(55.4+/-9.9 vs. 59.7+/-9.1;p=0.14), disease duration(8.7+/-5.3 years vs. 9.1+/-6.4 years;p=0.95), UPDRS-III(median[IQR]: 14.5[16] vs. 19[17.75];p=0.58) or MoCA(median[IQR]: 25[5] vs. 26[4];p=0.16). Trait-anxiety severity was greater in GBA-PD compared to IPD(42.8±3.2 vs. 37.4±1.5) in models adjusting for UPDRS-III and MoCA(p=0.008). Depression was also more prevalent in GBA-PD compared to IPD(43% vs. 16%;p=0.03), even after adjusting for UPDRS-III and MoCA scores(p=0.014). Of interest, in comparisons of GBA-PD and IPD by gender, GBA-PD men had more prevalent depression(57.1% vs. 13.9%;p=0.01) and higher trait-anxiety scores(median[IQR]:50.0[23] vs. 35.5[17];p=0.05) than IPD men; this difference was not present in women. CONCLUSIONS: GBA-PD has a neuropsychiatric phenotype of increased anxiety and depression, which is present even after adjustment for cognitive and motor impairments. Some of this effect may be mediated by a disproportionate burden of anxiety and depression among GBA-PD men compared to IPD men. Study supported by: NYS-DOH(Empire Clinical Research Investigator Program), Marcled Foundation, Bigglesworth Family Foundation, NIH(5K02NS073836-03)
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".