Gerstmann-Sträussler-Scheinker disease due to a novel prion protein gene mutation
Bibliographic record
Abstract
Prion diseases are rapidly progressive, fatal brain disorders arising sporadically, genetically, or by infection.1 Dominant, high-penetrance mutations in the gene ( PRNP ) encoding the prion protein (PrP) cause 5%–15% of human cases.2 Gerstmann-Straussler-Scheinker (GSS) disease is an exceedingly rare inherited phenotype,2 defined neuropathologically by multicentric, PrP-containing amyloid plaques. We present a patient with prominent seizures, cognitive decline, and ataxia who was found to have a novel mutation in PRNP . ### Case report. A 34-year-old man presented in status epilepticus. Despite multiple anticonvulsants, he continued to have complex partial and generalized tonic-clonic seizures. He developed an unsteady gait, slurred speech, and personality change marked by disinhibition. Three years prior, he had onset of gradual cognitive decline, which accelerated following the onset of epilepsy. Eight years prior, the patient had developed night terrors, which resolved spontaneously after 6 years. Otherwise, the patient was healthy. His 7-year-old son was recently diagnosed with Asperger syndrome. Examination showed a Montreal Cognitive Assessment score of 15/30. Neuropsychiatric assessment revealed memory and executive function deficits. The patient demonstrated saccadic pursuit, square wave jerks, and flaccid dysarthria. Power and reflexes were normal; plantar responses were flexor. There was diffuse paratonia and axial rigidity. Finger-to-nose testing was normal but he had mild difficulty with heel-to-shin testing. Rapid alternating movements were impaired by apraxia. Gait was slightly wide-based. Nonstimulus-sensitive myoclonus was present. The patient underwent extensive investigations (table e-1 on the Neurology ® Web site at www.neurology.org). Brain MRI on multiple occasions showed mild diffuse cortical atrophy and mild cerebellar vermian atrophy without restricted diffusion or gadolinium …
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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 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| 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".