Clinical and cognitive correlates tractography analysis in patients with white matter hyperintensity of vascular origin.

Purpose: White matter hyperintensity lesions (WMHL) in the brain are a consequence of cerebral small vessel disease and microstructural damage. Patients with WMHL have diverse clinical features, and hypertension, advanced age, obesity, and cognitive decline are often observed. However, whether these clinical features are linked to interrupted structural connectivity in the brain requires further investigation. This study therefore explores the white matter pathways associated with WMHL, with the objective of identifying neural correlates for clinical features in patients with WMHL. Methods: Diffusion magnetic resonance imaging (MRI) and several clinical features (MoCA scores, hypertension scores, body mass index (BMI), duration of hypertension, total white matter lesion loads, and education.) highly related to WMHL were obtained in 16 patients with WMHL and 20 health controls. We used diffusion MRI connectometry to explore the relationship between clinical features and specific white matter tracts using DSI software. Results: The results showed that the anterior splenium of the corpus callosum, the inferior longitudinal fasciculus, the anterior corpus callosum and the middle cerebellar peduncle were significantly correlated with hypertension scores (false discovery rate (FDR) = 0.044). The anterior splenium of the corpus callosum, the left thalamoparietal tract, the inferior longitudinal fasciculus, and the left cerebellar were significantly correlated with MoCA scores (FDR = 0.016). The anterior splenium of corpus callosum, inferior fronto-occipital fasciculus, cingulum fasciculus, and fornix/fimbria were significantly correlated with body mass index (FDR = 0.001). Conclusion: Our findings show that hypertension score, MoCA score, and BMI are important clinical features in patients with WMHL, hypertension degree and higher BMI are associated with whiter matter local disconnection in patients with WMHL, and may contribute to understanding the cognitive impairments observed in patients with WMHL.

MS or not MS: T2-weighted imaging (T2WI)-based radiomic findings distinguish MS from its mimics.

BACKGROUND: Ischemic vasculopathy, particularly small-vessel disease, may mimic multiple sclerosis (MS) located in the periventricular or subcortical region on magnetic resonance (MR) examinations and should be included in the differential diagnosis of MS-like lesions. OBJECTIVE: To evaluate the performance of a T2-weighted imaging (T2WI)-based radiomic signature to distinguish MS lesions from lesions corresponding to ischemic demyelination, which often mimics MS on MRI. METHODS: A retrospective study was conducted in 38 patients (627 lesions) with MS and 914 patients (2466 lesions) with lesions mimicking ischemic demyelination in the periventricular or subcortical region. All patients underwent 3 T MRI. A total of 472 radiomic features were extracted from the T2WI data of each patient. Intraclass correlation coefficients were used to select the features with excellent stability and repeatability. Then, we used the minimum-redundancy maximum-relevance (mRMR) and least absolute shrinkage and selection operator (LASSO) algorithms for feature selection. After feature selection, various classifiers (including logistic regression, decision tree, AdaBoost, random forest (RF), or support vector machine (SVM)) were trained. The performance of each classifier was validated in the test set by determining the area under the curve (AUC). RESULTS: Nine features were selected to distinguish MS lesions from the similar lesions of ischemic demyelination. The radiomic signature showed a significant difference between the MS and ischemic demyelination patients (p < 0.01). RF and SVM were overfitted. The LASSO logistic regression model was the best-performing radiomic model,with an AUC, accuracy, sensitivity, and specificity of 0.900 (95% CI: 0.883-0.918), 87.0%, 58.9% and 95.2%, respectively, in the training set and 0.828 (95% CI: 0.791-0.864), 87.7%, 53.6% and 94.4%, respectively, in the validation set. CONCLUSION: The T2WI-based radiomic signature can effectively differentiate MS patients from patients with MS-like lesions due to ischemic demyelination.

Effect of the Minor C Allele of CNTN4 rs2619566 on Medial Hypothalamic Connectivity in Early-Stage Patients of Chinese Han Ancestry with Sporadic Amyotrophic Lateral Sclerosis.

OBJECTIVE: Clinical symptoms such as major defects in energy metabolism may involve the hypothalamus in amyotrophic lateral sclerosis (ALS) patients. Our recent study discovered that the single-nucleotide polymorphisms (SNPs) of rs2619566, rs79609816 and rs10260404 are associated with sporadic ALS (sALS). Thus, this study aims to investigate the hypothalamic functional reorganization and its association with the above polymorphisms risk alleles in sALS patients of Chinese Han ancestry. METHODS: Forty-four sALS patients (28 males/16 females) and 40 healthy subjects (HS; 28 males/12 females) underwent resting-state functional MRI, genotyping and clinical assessments. A two-sample t test (P < 0.01, GRF correction at P < 0.05) was performed to compare hypothalamic connectivity for group-level analysis in disease diagnosis and genotype, and then the genotype-diagnosis interaction effect was assessed. Finally, Spearman correlation analyses were performed to assess the relationship between the altered functional connectivity and their clinical characteristics. RESULTS: The sALS patients showed a short disease duration (median = 12 months). Regarding the diagnosis effect, the sALS patients showed widespread hypothalamic hyperconnectivity with the left superior temporal gyrus/middle temporal gyrus, right inferior frontal gyrus, and left precuneus/posterior cingulate gyrus. For the genotype effect of SNPs, hyperconnectivity was observed in only the medial hypothalamus when the sALS patients harboring the minor C allele of rs2619566 in contactin-4 (CNTN4), while the sALS patients with the TT allele showed a hyperconnectivity network in the right lateral hypothalamus. This connectivity pattern was not observed in other SNPs. No significant genotype-diagnosis interaction was found. Moreover, altered functional connectivity was not significantly correlated with clinical characteristics (P : 0.11-0.90). CONCLUSION: These results demonstrated widespread hypothalamic hyperconnectivity in sALS. The risk allele C of the CNTN4 gene may therefore influence functional reorganization of the medial hypothalamus. The effects of the CNTN4 rs2619566 polymorphism may exist in the hypothalamic functional connectivity of patients with sALS.