Fahr’s Syndrome in a Greenlandic Inuit
Bibliographic record
Abstract
Fahr's disease or syndrome is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1,000,000 [1].Recently, a number of genes have been identified, known to be associated with familial primary brain calcification (PFBC), causing Fahr's disease or syndrome [1].These genes are SCL20A2, PDGFB, PDGFRB and XPR1, and a significant correlation was found between the presence of headache in PDGFB mutations, and parkinsonism with SLC20A2 [2].We present the case of a 49-year-old woman with Greenlandic Inuit origin and an otherwise unremarkable medical history.She initially presented with symptoms of headache and diplopia.She was referred to a CT scan of the cerebrum, which showed bilateral calcifications of the thalamus and corpus striatum (Figures 1 and2) compatible with Fahr's syndrome [1].Shortly after, the patient developed tremor of the right hand, fatigability especially of her right side, dizziness, and minor cognitive decline.Laboratory studies showed no metabolic disorders such as hypopituitarism, parathyroid disturbances or significant changes in the calcium-phosphate metabolism, besides a minimal hypocalcaemia (free calcium: 1.12 mmol/L, reference 1.17-1.34mmol/L), which was interpreted as secondary to D-vitamin deficiency (13 nmol/L), very common in the arctic region.No other primary cause for brain calcification was detected, and the patient has a younger sister, who is also diagnosed with Fahr's syndrome, suggestive of an inherited type.The present case shows that symptoms of Fahr's syndrome may be few.Furthermore, this exemplifies that neurological manifestations may be confined to one side of the body, despite the presence of bilateral calcifications [1].This case illustrates the importance of neuroimaging for establishing the diagnosis.
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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 | 0.000 | 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".