Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study
Bibliographic record
Abstract
BACKGROUND AND OBJECTIVES: The phenotype of p.A53T-α-synuclein (SNCA) mutation carriers with Parkinson's disease (A53T-PD) appears more severe compared to idiopathic PD (iPD), however, information is limited. Here we conducted a comprehensive longitudinal study to investigate the progression of motor and nonmotor features of Α53Τ-PD compared to iPD. METHODS: Detailed longitudinal 3-year data, concerning both motor and non-motor features, of 16 p.A53T-PD and 48 iPD, matched for age (51-53 years) and disease duration (approximately 4 years) at baseline, were downloaded from the Parkinson's Progression Markers Initiative (PPMI) database and compared between the two groups. Additionally, a cognitive composite score was generated by five cognitive tests, focused more on executive/visuospatial function. RESULTS: At baseline, global cognitive function, as assessed by the Montreal Cognitive Assessment (MOCA), was not significantly different between the two groups, in contrast to tests evaluating executive/visuospatial function, including the composite score, which were worse in A53T-PD. There was a significant decline over time in all neuropsychological tests in A53T-PD, while iPD remained stable. A similar pattern was revealed for motor status and function, as well as autonomic function, which were similar between the two groups at baseline, but deteriorated significantly only in A53T-PD over time. DISCUSSION: A53T-PD patients present an accelerated decline in both motor and non-motor parameters, with an impairment in executive-visuospatial function occurring early in the disease process. Such data may set the stage for targeted disease-modifying therapies in this particular subtype, while generated data may be widely applicable to iPD, which is largely a sporadic synucleinopathy.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 teacher head, 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".