BMC Neurology最新文献

Background: Myasthenia gravis (MG) is a chronic autoimmune neuromuscular junction disorder mediated by autoantibodies. Existing diagnostic methods mainly rely on serum antibody detection and electrophysiological testing, which are limited by invasiveness and suboptimal sensitivity and specificity. This study aimed to identify potential urinary biomarkers for noninvasive MG diagnosis using proteomics.

Methods: Data-independent acquisition (DIA) proteomic profiling was performed using a high-resolution Orbitrap Astral mass spectrometer on urine samples from 10 MG patients and 10 healthy controls. Differentially expressed proteins (DEPs) were identified and analyzed through Gene Ontology and KEGG pathway enrichment. LASSO regression and support vector machine models were applied to identify hub diagnostic proteins. The expression and diagnostic performance of the hub protein TPD52 were further validated in an independent cohort of 34 participants using ELISA.

Results: A total of 2,003 urinary proteins were identified between MG patients and healthy controls, among which 216 were significantly differentially expressed (|fold change| ≥ 1.2, p < 0.05). Enrichment analysis revealed that these DEPs were associated with neurodegenerative and neuroinflammatory diseases. Eight key proteins (TPD52, SORL1, PLAU, TSPAN3, CASP14, QPCT, CILP2, and CTHRC1) were identified by both LASSO and SVM algorithms, all exhibiting strong diagnostic performance (AUC > 0.76). In the independent validation cohort, the urinary expression of TPD52 was confirmed to be significantly elevated in MG patients, and ROC analysis yielded an AUC of 0.746, supporting its potential diagnostic value.

Conclusion: This pilot urinary proteomic study provides preliminary evidence for urinary TPD52 as a potential noninvasive biomarker for MG and suggests its possible involvement in MG pathogenesis. These findings offer new insights into the molecular mechanisms of MG and lay a foundation for applying urinary proteomics in neuroimmune disorders.

Background: Intramedullary melanocytoma of the spinal cord is an extremely rare primary melanocytic tumor, with less than 30 cases reported worldwide. Although histologically benign, these lesions may show locally aggressive behavior and a tendency for recurrence. We report an unprecedented case of multifocal intradural extramedullary recurrence following resection of an intramedullary melanocytoma, an occurrence not previously described in the English-language literature.

Case presentation: A 70-year-old woman presented with rapidly progressive weakness and sensory loss in both lower limbs. Four years earlier, she had undergone total resection of a histologically confirmed intramedullary melanocytoma of the conus medullaris. Current MRI revealed multiple intradural extramedullary lesions extending from the midthoracic to sacral levels, the largest at T5 and T11-T12, causing severe spinal cord compression. The lesions were hyperintense on T1-weighted, hypointense on T2-weighted and markedly hyperintense on T1 SPIR images, consistent with leptomeningeal dissemination of a melanocytic tumor. No intracranial lesions were detected. Given the extensive spinal involvement, further invasive diagnostics or radiotherapy were not indicated, and palliative management with corticosteroids and rehabilitation was initiated. The patient experienced gradual neurological deterioration with early spasticity and minimal partial recovery.

Conclusions: This case demonstrates that even histologically benign spinal melanocytomas can behave destructively and disseminate along the leptomeninges. Awareness of this potential, combined with long-term whole-neuraxis MRI surveillance, is crucial for early detection and timely management. The report highlights the unpredictable clinical course of these rare tumors and the need for individualized multidisciplinary care.