Mild Case of Unverricht-Lundborg Disease (ULD) Mimicking Juvenile Myoclonic Epilepsy (JME) in Adulthood (P2.184)
Bibliographic record
Abstract
OBJECTIVE: To demonstrate an extended phenotype of ULD (EPM1). BACKGROUND: ULD is an autosomal recessive neurodegenerative disease with progressive myoclonus epilepsy (PME), caused by cystatin B (CSTB) mutations. The onset is usually between 6 and 15 years of age, but the clinical course and severity are variable. DESIGN/METHODS: The proband who carried a diagnosis of JME presented with her partner for preconceptional genetic counseling. Carrier screening for the CSTB gene was carried out for both, employing detection of the dodecamer repeat expansion and sequencing of the CSTB gene to rule out point mutations. RESULTS: A 31-year-old female patient had a single GTCS during sleep at the age of 11 years, and onset of myoclonic jerks on awakening, which are well-controlled with valproic acid. She carries a clinical diagnosis of JME. Her developmental milestones were normal; she works as a high school teacher. Both paternal grandparents are of Irish origin, both maternal grandparents are French-Canadian. Four siblings of the maternal grandmother were diagnosed clinically with ULD and were known to us; three sisters died in their 20’s and 30’s, one brother died at age 65. A distant cousin of the paternal great grandmother was also said to have PME. At 30 years facial myoclonus was noted on exam. CSTB testing in the patient revealed that she was a compound heterozygote for two mutations: an expansion of the dodecamer repeat and a splice site c.67-1G>C mutation in intron 1, predicting a deletion of the downstream exon 2 with in-frame deletion of 34 aminoacids (p.delV23_K56), the most common EPM1 point mutation. CSTB testing was normal in the husband. CONCLUSIONS: Although ULD is often confused with JME in the early stages of the disease, it is rare to find patients with ULD at age 31 who are as well controlled and high-functioning as this patient. Furthermore, other compound heterozygotes with the same combination of mutations have had more severe phenotypes with progressive deterioration.
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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 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".