A Variant of Alternating Skew Deviation in GAD65 Antibody-Associated Cerebellar Ataxia
Bibliographic record
Abstract
Alternating skew deviation, GAD65-antibody cerebellar ataxia, Torsional nystagmusWe report a variant of GAD65 antibody-associated skew deviation in which after a quite prolonged period of apparent stability, the direction of gaze in which it first manifested abruptly switched sides.A 60-year-old woman reported 3 months of difficulty visually focusing and walking.Three months after those symptoms had resolved, she developed intermittent diplopia which soon persisted as constant painless binocular vertical diplopia on left lateral gaze.The initial examination showed a right head tilt, left head turn, and chin-up head position, mildly reduced right eye supraduction, left hypertropia maximal on looking to the left and up and present at distance and at near, and a mildly positive head tilt test on left head tilt.Fully 19 months later, she awoke with the previous diplopia gone but in its stead headache, vertical binocular diplopia on right gaze, vertical oscillopsia on right gaze, and gait imbalance.Examination then showed right hypertropia on right gaze, dissociated torsional jerk nystagmus on right gaze (i.e.right eye amplitude greater than left eye; nystagmus beating torsionally to the right), very small amplitude dissociated vertical nystagmus on left gaze (left eye amplitude greater than right eye), left hand incoordination, left heel-shin ataxia, gait ataxia, positive Romberg test, and inability to tandem walk.MRI scans of the brain with contrast after the initial presentation and after the change in direction of the skew deviation were normal.Tests for the antibodies Tr (DNER), Zic4, Hu, Yo, Ri, Ma2: Ta, CV2, amphiphysin, titin, SOX1, and recoverin were negative.Also, normal or negative were CBC, fasting glucose, hemoglobin A1C, creatinine, eGFR, TSH, thyroxine, thyroid peroxidase antibodies, parathyroid hormone, vitamins B1, B12, and E, ANA, ENA, acetylcholine receptor antibodies, gliadin IgG and IgA antibodies, transglutaminase IgA and IgG antibodies, tests for spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, and 17, and oligoclonal bands.CSF showed increased protein: 0.64 g/l (0.15-0.45 g/l).Quantitative ELISA tests showed > 10,000 IU/ml glutamic acid decarboxylase (GAD) antibodies in serum and 196 IU/ml in CSF.Mammography and CT scan of thorax, abdomen, and pelvis were normal.After 6 months of intravenous immunoglobulin treatment, 1 there was resolution of the headache, diplopia, imbalance, nystagmus on left gaze, left hand incoordination, gait ataxia, positive Romberg test, and inability to tandem walk.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.008 | 0.005 |
| Insufficient payload (model declined to judge) | 0.005 | 0.002 |
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".