ALS-Plus Syndrome: Non-motor Features in a Large ALS Cohort (S36.001)
Bibliographic record
Abstract
Background: ALS-Plus is a set of non-motor clinical features found in ALS. Here we describe the demographic and clinical characteristics of ALS patients with ALS-Plus syndrome. Methods: In a large cohort of 550 patients with ALS, 75 (13.5%) patients were identified with ALS-plus syndrome and compared to 475 patients without ALS-plus features. Atypical clinical manifestations were categorized into one of five groups, including: extrapyramidal features (resting Tremor, masked face, startled appearance, bradykinesia, rigidity, dystonia, and/or retropulsion), ocular motility abnormalities (gaze abnormalities, horizontal, up gaze, down gaze, impersistence and/or head movements), apraxia (apraxia, apraxia eye closure and/or apraxia other), cerebellar features (ataxia and/or dysmetria) and autonomic dysfunction (excessive sweating, special sensory and/or loss of taste and smell). Genetic screening for SOD1, C9orf72, TARDP, VCP, and ATXN 2 was carried out in 363 of these patients. Results: Ocular motility abnormalities were the most common symptom (84%) and cerebellar dysfunction (1.3%) were the least common. Median number of atypical manifestations per ALS-plus patient was 4. Patients within the ALS-plus phenotype were associated with increased frequency of bulbar (ALS-plus: 49% vs non-ALS-plus: 22%) and cognitive disease (2.6% vs 0.06) at onset; higher incidence of cognitive impairment (8% vs 2.5%), worse survival (29.66 months vs 42.5 months), and increased prevalence of pseudobulbar affect (49.3% vs 25.1%) (all comparisons p>0.001). Familial ALS also was more common in the ALS-Plus phenotype (23.2% vs 4.6%) (χ2 > 0.001). Conclusion: Patients with ALS-Plus represents a unique phenotype in ALS. This clinical presentation suggests that ALS is a multisystem disorder, and the clinical and pathological boundaries of ALS extend outside of the motor system into other brain areas. Study Supported by: AG32953, AG17586, AG38490, NS44266 and the Wyncote Foundation.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".