Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient
Bibliographic record
Abstract
A 65-year-old, right-handed man of Polish ancestry developed insidious onset, gradually progressive gait ataxia at the age of 55. Three years later, he started dropping things due to myoclonic jerks involving the trunk and upper extremities (video on the Neurology ® Web site at [Neurology.org][1]). Worsening ataxia and frequent falls resulted in the use of a wheelchair by age 64. His medical history was positive for bilateral hearing loss since his early 50s. There was no history of seizures, dysphagia, mood disorders, psychosis, or any other significant medical illness in the past, besides being a 40-pack-year smoker. He was born of nonconsanguineous parents, and his sister died of an unknown illness at the age of 13. On neurologic examination, cognition was normal and speech was dysarthric. Although visual acuity was normal, there was reduced vertical gaze (more pronounced on downgaze), which responded to oculocephalic maneuver, consistent with a vertical supranuclear gaze palsy (VSGP). Horizontal eye movements were intact, and there was no nystagmus. Bilateral sensorineural hearing loss was detected, right more than left. Generalized myoclonic jerks were present, predominantly involving the upper extremities on posture maintenance. There were no features suggestive of parkinsonism. He had marked gait ataxia with milder appendicular ataxia and dysdiadochokinesia. The remainder of his neurologic examination was normal. Abdominal examination did not reveal any visceromegaly. The NPC suspicion index score1 was 61. Laboratory workup showed normal complete blood count, serum electrolytes, creatinine, glucose, liver function test, serum lactate, and EEG. Spinocerebellar ataxia gene panel was negative for SCA1 , SCA2 , SCA3 , SCA6 , SCA7 , SCA8 , and SCA17 . Genetic testing for NPC was positive for 2 pathogenic variants (p.P1007A and p.1077Q) of NPC1 gene. MRI brain showed cortical and midbrain atrophy with subcortical nonspecific white matter changes (figure). His myoclonic jerks responded to valproate 500 mg oral twice daily. He was started on miglustat 100 mg oral twice daily titrated to 200 mg oral 3 times a day. [1]: http://neurology.org/lookup/doi/10.1212/WNL.0000000000003011
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.003 |
| 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".