<scp><i>NOTCH2NLC</i> GGC</scp> Repeat Expansion Presenting as Adult‐Onset Cervical Dystonia
Bibliographic record
Abstract
Neuronal intranuclear inclusion disease (NIID) is the pathological hallmark of a heterogeneous neurodegenerative disease spanning dementia, neuropathy, parkinsonism, encephalitic episodes, and seizures.1 Onset may be in infancy, childhood, or adulthood and be sporadic or familial.Adult-onset disease is divided into dementia-and limb-weakness dominant subtypes.Recent novel presentations include isolated tremor, 2 migraine, 3 recurrent vomiting, 4 and oromandibular dystonia.5 Identification of GGC expansions in the 5'UTR of the Notch-2 N-terminal-like-C (NOTCH2NLC) gene have enhanced diagnosis.1 We report a patient with an 11-year history of adult-onset cervical dystonia (CD), without other symptoms, in association with imaging and biopsy appearances of NIID and a monoallelic "GGC" repeat expansion in NOTCH2NLC (genetic findings reported elsewhere).6 Our patient expands the spectrum of NOTCH2NLC and highlights the importance of considering NIID in familial movement disorders with leukoencephalopathy.A 59-year-old Chinese woman was referred with gradually progressive head tremor and neck discomfort.There has been no symptom evolution over 7 years of follow-up.Her father and sister experience upper limb tremor, but were not available for examination.This sister and another sister were subsequently diagnosed with dementia.Four other siblings and one daughter are well.Propranolol, topiramate, and trihexyphenidyl were ineffective, and botulinum toxin is of moderate symptomatic benefit.Examination age 66 years reveals an irregular, predominantly "no-no" head tremor, varying in amplitude (Video 1).There is retrocollis and mild right torticollis.There is no vocal tremor.
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| 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".