Background: Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention. This article aims to study the features of AMN in Chinese patients and expand the gene spectrum of Chinese X-linked adrenoleukodystrophy (X-ALD) patients. Methods: We applied clinical analysis, radiology, plasma levels of very long chain fatty acids (VLCFA) and genetic analysis to test the 6 Chinese AMN patients. Results: All 6 patients are men. Ages of neurological symptom onset are distributed between 21 and 38. Sexual dysfunction occurred in 5 of 6 patients. Three patients had positive family history. Five patients had Addison’s disease. Four patients were diagnosed as pure AMN, while the other two patients were with cerebral involvement. Four patients had abnormalities of nerve conduction studies. There were four patients with central conduction defects in somatosensory evoked potential tests. All 6 patients were found diffuse cord atrophy in spinal MRI. Brain MRI showed abnormal signals in 2 of the 6 tested patients, which indicated the clinical phenotypes. Plasma levels of VLCFA, as well as C24:0/C22:0 and C26:0/C22:0 ratios were elevated in 5 tested patients. Five different ABCD1 mutations were identified in 5 tested patients, one of which was a de novo mutation, and the other four have been reported previously. Conclusion: This research described the clinical, neuroimaging, biochemical, and genetic sides of Chinese AMN patients. A de novo mutation in the ABCD1 gene sequence was identified. Emotional trauma may trigger or aggravate the development of cerebral demyelination in AMN patients. Regular evaluation of brain MRI is important for AMN patients, especially for ‘pure AMN’ patients. When encountering patients with ‘myeloneuropathy-only’, neurologists should not ignore the tests of VLCFA or/and the ABCD1 gene.

Amyotrophic lateral sclerosis (ALS) is biologically heterogeneous, and oxidative injury can contribute to degeneration while also reflecting downstream damage or adaptive responses. Glutathione S-transferase Pi 1 (GSTP1) combines glutathione-dependent detoxification with non-canonical regulation of c-Jun N-terminal kinase (JNK), but the biochemical evidence for direct GSTP1–JNK coupling largely comes from non-ALS systems. This narrative review separates human ALS observations, functional ALS-model findings, and extrapolated mechanisms. Altered GSTP1 abundance or total GST activity in ALS does not establish GSTP1-specific impairment or causality. JNK-related injury has stronger functional support in selected ALS models involving DLK/MAP3K12, ASK1, HIPK2, and MAP4K4. Ferroptosis-related findings are concentrated in SOD1 models, with additional evidence of susceptibility in FUS cellular models, and do not establish a GSTP1–JNK–ferroptosis cascade. We distinguish neuronal and glial context and the execution of apoptosis versus ferroptosis. Decisive tests combine GSTP1 perturbation with catalytic and interaction-deficient rescue, direct binding and JNK-activity assays, and pathway-specific cell-death rescue. GSTP1 remains a candidate context-dependent modifier of shared neurodegenerative processes; causal validation, reproducible pathway biomarkers, and safety assessment are required before therapeutic translation.

Objectives: To analyze the factors affecting prognosis of patients with sporadic amyotrophic lateral sclerosis (ALS), to establish a nomogram predictive model. Methods: A total of 236 patients with sporadic ALS hospitalized in the Department of Neurology of the First Medical Center, Chinese PLA General Hospital, from March 2011 to November 2021 were enrolled in the study. Basic information and clinical and laboratory data of patients were collected, including sex, age at onset, body mass index, disease duration, diagnostic grade, and serum levels of creatine kinase (CK), creatinine (Cr), uric acid (UA), and ferritin. Kaplan-Meier univariate and multivariate Cox proportional hazard regression models were used to analyze the prognostic factors, and a nomogram predictive model was established. Results: Univariate analysis showed that ferritin, CK, Cr, age at onset, disease duration, and body mass index (BMI) were all correlated with prognosis of ALS. Multivariate analysis showed that ferritin, Cr, disease duration, age at onset, and BMI were the strongest predictors. ROC curve and correction curve analyses verified the accuracy of the nomogram prediction model. Conclusions: Ferritin, Cr, disease duration, age at onset, and BMI are independent predictors of survival in patients with ALS. Based on these clinical and biological prognostic factors, we established a quantitative model for predicting survival probability, and may assist in the prognostic evaluation of ALS, pending further validation.

Background: In resource-limited rural settings, patients with multifocal motor neuropathy (MMN) often present late due to limited access to neurophysiology services, by which time significant axonal damage may have occurred, rendering them less responsive to immunotherapy—yet this clinically subgroup is consistently underrepresented in randomized controlled trials. In this study, we aimed to examined the impact of intravenous immunoglobulin (IVIg) frequency on electrophysiological changes in such undertreated MMN patients. Methods: A retrospective analysis was conducted across three rural medical centers. Patients receiving > 2 IVIg cycles annually were classified as group A, others as group B. Nerve conduction was assessed at baseline, after the first treatment course, and at the final follow-up. Results: Thirty-nine MMN patients initially identified, 11 patients with confirmed conduction block (CB) were included. 27 nerves exhibited definite CB, with 7 (25.9%) in the median nerve, 8 (29.6%) in the ulnar nerve, and 6 (18.5%) in both the tibial and peroneal nerves. The treatment intervals was 4.9 ± 1.8 (range, 2.6 to 8.0) months, The follow-up period was 17.2 ± 3.3 months (range, 12.0 to 21.0). 7 (63.6%) were in group A, while 4 patients (36.4%) were in group B. There was a clear improvement in mRS scores at the last follow-up compared to baseline (z = -2.795, p = 0.007). We compared the variations in distal compound muscle action potential (CMAP) amplitude at baseline and the last follow-up, after adjusting for baseline CMAP amplitude, it showed significantly greater improvements in distal CMAP amplitude in group A versus group B (F = 40.217, P < 0.001; B = 2.881, 95% CI 1.941 ~ 3.821, P < 0.001), with the model accounting for 71.5% of the variance (adjusted R²= 0.715). The number of CBs decreased from 17 to 14 in group A, with no change in group B ( p > 0.05). Conclusions: High frequency IVIg treatment may be associated with improved CMAP amplitude and mRS in undertreated MMN patients, suggesting potential benefits that require further validation.