A Family With Corticobasal Degeneration, Parkinson’s Disease, Amyotrophic Lateral Sclerosis, and Dementia (P3.085)
Bibliographic record
Abstract
OBJECTIVE: To describe clinical, PET, pathological, and genetic findings of an extensive kindred with hereditary corticobasal degeneration (CBD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), and dementia. DESIGN/METHODS: Two family members including the index case were examined neurologically. Clinical information of the other family members was collected from questionnaires. Three asymptomatic family members underwent PET. Proband was examined postmortem. Genetic studies were performed. RESULTS: Pedigree contains 64 individuals with 8 affected patients. The inheritance is likely autosomal dominant with reduced penetrance. The index case developed progressive speech and language difficulties at the age of 64 years. On examination at the age of 68 years, she showed non-fluent aphasia, word-finding difficulties, circumlocution, frontal release signs, and right-sided bradykinesia, rigidity, and pyramidal signs. She died 5 years after the symptomatic disease onset. The neuropathology was characterized by numerous ballooned neurofilament-positive neurons, tau-positive astrocytic plaques, and oligodendroglial coiled bodies, all typical of CBD. Two other family members were diagnosed with Parkinsonism and behavioral problems, two with PD alone, one with ALS alone, one with dementia, and one with progressive gait and speech problem. PET scanning with DTBZ binding and FDG uptake on three asymptomatic family members was normal. Genetic sequencing on two symptomatic patients including proband excluded mutations in the MAPT gene. CONCLUSIONS: Such complex phenotypes rarely occur and, if at all, then are usually associated with MAPT mutations. However, in this family, MAPT mutations have been excluded, implicating another causative gene. We are conducting further genetic studies on this family. Study Supported By: P50NS72187; the Family of Carl Edward Bolch, Jr. and Susan Bass Bolch; the Max Kade 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) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.000 | 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".