Bibliographic record
Abstract
Introduction Idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is an autosomal dominant, rare progressive neurological disorder, of unknown aetiology. It is characterised by abnormal deposition of calcium in the basal ganglia and other brain regions. We present the case of a woman with Fahr’s disease. Case 63 year old woman presented with rapid cognitive decline on resuming work after a long holiday. Her co-morbidities included type 1 diabetes, Crohn’s disease and hypertension. She was slow at work, had difficulty concentrating, tired and forgetful in paying important bills. On initial clinical examination, she was fidgety without any choreiform movements or parkinsonian features. Addenbrooke’s cognitive assessment scored 90/100 but lost points in fluency and visuospatial. MRI brain showed bilateral symmetrical blooming artefacts suggestive of calcifications involving basal ganglia, thalami, cerebellar hemispheres and occipital cortices and also extensive white matter disease. CT brain confirmed intracerebral calcification involving the same areas in MRI. She had an ANA of 1280, dsDNA of 40, antiphospholipid Abs with b2GP1 IgG of 20 U/mL and a normal lumbar puncture. During follow-up, she had developed choreiform movements of her trunk and legs, bilateral dysdiadochokinesia, and bradykinesia on repetitive fine finger movements. Her Montreal cognitive assessment score was 24/30. Conclusion Fahr’s disease is a very rare condition with unknown prevalence. Typical age of presentation is between the 4th – 6th decades but early onset is reported. Symptoms include Parkinsonism, chorea, dystonia, cognitive impairment, seizures, headache or ataxia. The familial form of IBGC is genetically heterogeneous and both sporadic and familial forms are not associated with disorders of calcium or parathyroid hormone metabolism. Our case illustrates the high index of clinical suspicion necessary to diagnose rare conditions such as Fahr’s disease.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".