Search

BackgroundOculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease, associated with CGG repeat expansions in the 5′ untranslated region of LRP12, GIPC1, NOTCH2NLCand RILPL1. However, the genetic cause of a proportion of pathoclinically confirmed cases remains unknown.MethodsA total of 26 OPDM patients with unknown genetic cause(s) from 4 tertiary referral hospitals were included in this study. Clinical data and laboratory findings were collected. Muscle samples were observed by histological and immunofluorescent staining. Long-read sequencing was initially conducted in six patients with OPDM. Repeat-primed PCR was used to screen the CGG repeat expansions in LOC642361/NUTM2B-AS1in all 26 patients.ResultsWe identified CGG repeat expansion in the non-coding transcripts of LOC642361/NUTM2B-AS1in another two unrelated Chinese cases with typical pathoclinical features of OPDM. The repeat expansion was more than 70 times in the patients but less than 40 times in the normal controls. Both patients showed no leucoencephalopathy but one showed mild cognitive impairment detected by Montreal Cognitive Assessment. Rimmed vacuoles and p62-positive intranuclear inclusions (INIs) were identified in muscle pathology, and colocalisation of CGG RNA foci with p62 was also found in the INIs of patient-derived fibroblasts.ConclusionsWe identified another two unrelated cases with CGG repeat expansion in the long non-coding RNA of the LOC642361/NUTM2B-AS1gene, presenting with a phenotype of OPDM. Our cases broadened the recognised phenotypic spectrum and pathogenesis in the disease associated with CGG repeat expansion in LOC642361/NUTM2B-AS1.

•Radiomic Nomogram Development: A radiomic nomogram was developed and validated to differentiate between myelin oligodendrocyte glycoprotein antibody-related disease (MOGAD) and aquaporin-4 immunoglobulin G-positive neuromyelitis optica spectrum disorder (AQP4+NMOSD).•Comprehensive Feature Integration: The study combined 11 radiomic features with 1 clinical feature to construct a hybrid diagnostic model, achieving high accuracy in distinguishing MOGAD from AQP4+NMOSD.•Advanced MRI-Based Radiomics: Radiomic features were extracted from cervical spinal cord and brainstem lesions on sagittal T2-weighted MRI, utilizing high-throughput quantitative analysis.•Feature Selection and Model Optimization: The least absolute shrinkage and selection operator (LASSO) method was employed to select the most predictive features, reducing overfitting and enhancing model performance.•Model Validation and Performance: The hybrid model demonstrated exceptional diagnostic performance in both primary and external validation cohorts, supported by calibration curves, decision curve analysis (DCA), and receiver operating characteristic (ROC) curve analysis.•Clinical Implications: The study highlights the potential of radiomics as a complementary tool to traditional serological testing, addressing the limitations of conventional MRI features in differentiating demyelinating diseases.•Future Directions: Incorporating additional clinical features in future research could further enhance the diagnostic efficacy of hybrid radiomic models.