DP07 Diagnostic implication of skin biopsy for a rare neurodegenerative disorder
Bibliographic record
Abstract
Abstract Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by eosinophilic hyaline intranuclear inclusions in various cells of the central nervous system and extranervous system, including the skin and subcutis. This case report details a 67-year-old man presenting with progressive short-term memory impairment, paranoia, anxiety and bladder dysfunction, leading to a diagnosis of NIID. It emphasizes the utilization of skin biopsy as a diagnostic tool beyond dermatological conditions. NIID is a slowly progressive neurodegenerative disorder associated with diverse clinical manifestations. Despite its heterogeneity, characteristic eosinophilic hyaline intranuclear inclusions in nervous system cells and other organs define the disease. Clinical presentations include pyramidal and extrapyramidal symptoms, dementia, ataxia, autonomic dysfunction, convulsions and neuropathy. A 67-year-old man presented with progressive short-term memory loss, daytime somnolence, paranoia, nocturia and incontinence. Clinical examination revealed a Montreal Cognitive Assessment score of 21/30, with significant points lost in delayed recall. Magnetic resonance imaging indicated increased diffusion-weighted imaging signal at the corticomedullary junction and cerebral hemisphere, suggestive of NIID. Two axillary skin punch biopsies were performed, showing occasional eosinophilic intranuclear inclusions in the nuclei of the epithelial cells lining the sweat glands. These intranuclear inclusions were strongly positive for p62 (ubiquitin) immunostain. In addition, p62-positive intranuclear inclusions were identified in the nuclei of adipocytes, endothelial cells lining dermal and subcutaneous blood vessels, and stromal fibroblasts. NIID is an unusual disease entity with varied clinical phenotypes, including infantile, juvenile and adult-onset forms. The age of onset and dominant symptoms further classify patients. Challenges in antemortem diagnosis historically limited understanding, with postmortem dissection being the primary diagnostic method until 2011. The discovery of intranuclear inclusions in skin biopsies, specifically ubiquitin-positive inclusions in sweat gland cells, adipocytes and fibroblasts, has revolutionized NIID diagnostics. Skin biopsy, although invasive, is preferable to other methods in terms of accessibility, acceptability, complication risk and sensitivity. This case report underscores the significance of skin biopsy in diagnosis beyond dermatological conditions. Further research is needed to enhance understanding, elucidate the pathogenesis, and develop targeted treatments for this complex neurological disorder. Ongoing efforts in research will contribute to a clearer clinical picture and improved management strategies for individuals affected by NIID (Pang J, Yang J, Yuan Y et al. The value of NOTCH2NLC gene detection and skin biopsy in the diagnosis of neuronal intranuclear inclusion disease. Front Neurol 2021; 12: 624321).
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".