Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that mostly presents as sporadic cases. Currently, no mitochondrial-related gene mutations have been identified as the cause of ALS. Mitochondrial gene mutations cause rare hereditary diseases, and the symptoms of pure muscle weakness and muscle atrophy are rarely observed.
We report the case of a young patient clinically diagnosed with ALS concurrently associated with a pathogenic mutation in the mitochondrially encoded nicotinamide adenine dinucleotide: ubiquinone oxidoreductase core subunit 6 (MT-ND6) gene. However, the pathogenic relationship between the MT-ND6 gene and ALS has not been confirmed.
We provide a case report and a literature review aimed at increasing the understanding of the connection between the two. It is essential to consider the potential modifying role of mitochondrial pathogenic genes in ALS.
Migraine diagnosis relies on clinical criteria thatencompass various pain features and associated symptoms, which can vary widelyacross patients. The aim of this study was to analyze the potential associationbetween sociodemographic factors and the characteristics of migraine attacks.
We conducted an observational longitudinal study withprospective and real-time data collection using a custom-designed smartphoneapplication. Clinical features and accompanying symptoms of each attack wererecorded.
A total of 377 migraine attacks from 51 patients wereanalyzed. Headache intensity was higher in women (p = 0.038), in thosewith lower cognitive reserve (p = 0.049), and in patients with higherHeadache Impact Test-6 (HIT-6) scores (p = 0.020). Hemicranial pain wasmore common in patients with a longer disease duration (p = 0.028) andfemale sex was associated with a higher frequency of nausea (p = 0.034).
Prospective and real-time recording of migraine attacks providesadded value by more accurately capturing their clinical variability. Our findings suggestthat sociodemographic variables influence attack characteristics, supporting the need formore personalized therapeutic approaches.
To evaluate the clinical utility of P300 event-related potentials combined with video electroencephalography (VEEG) in assessing post-stroke cognitive impairment (PSCI) in patients with strokes affecting different brain regions.
Stroke patients treated at our hospital were enrolled as the observation group. Based on lesion location, stroke patients were categorized into four subgroups: frontal lobe (n = 59), temporal lobe (n = 47), basal ganglia (n = 73), and brainstem (n = 35). An additional 60 age-matched healthy individuals were recruited as controls. All participants underwent cognitive assessment using the Mini-Mental State Examination (MMSE), and P300 and VEEG evaluations.
At 7 days, 1 month, 3 months, and 6 months post-treatment, MMSE scores in the observation group were significantly lower than those in the control group. Correlation analysis showed that, in the frontal- and temporal-lobe groups, P300 amplitude and VEEG α and β power at day 7 were positively correlated with MMSE scores at 6 months. In contrast, P300 latency and VEEG delta and θ power, slow-wave index, and δ/α ratio (DAR) at day 7 were negatively correlated with 6-month MMSE scores. In the basal ganglia group, day 7 P300 amplitude and VEEG α power were positively correlated with 6-month MMSE scores, whereas P300 latency, δ and θ power, and DAR were negatively correlated. In the brainstem group, P300 latency, δ power, and slow-wave index at day 7 were negatively correlated with MMSE scores at 6 months. Receiver operating characteristic (ROC) analysis demonstrated that P300 combined with VEEG predicted PSCI in the frontal lobe group with a sensitivity of 94.32%, specificity of 92.58%, and area under the curve (AUC) of 0.932 (95% CI: 0.900–0.967). For the temporal lobe group, sensitivity was 82.74%, specificity 79.27%, and AUC 0.864 (95% CI: 0.812–0.915). In the basal ganglia group, sensitivity and specificity were 78.24% and 76.12%, respectively (AUC = 0.789, 95% CI: 0.727–0.851). For the brainstem group, sensitivity was 72.78%, specificity 69.56%, and AUC 0.727 (95% CI: 0.661–0.803).
The combination of P300 and VEEG is a valuable tool for the early screening of PSCI, particularly in patients with frontal- or temporal-lobe strokes, where it shows highly predictive sensitivity and specificity.
Intracerebral hemorrhage (ICH) is a devastating stroke subtype with high morbidity and mortality. Beyond primary injury from blood extravasation, secondary injury driven by erythrocyte lysis and its toxic degradation products exacerbates inflammation, oxidative stress, and neuronal damage. Accelerating endogenous hematoma resolution, including the removal of erythrocytes and their byproducts, represents a promising therapeutic strategy. This review systematically delineates three key mechanisms of hematoma resolution post-ICH: (1) erythrophagocytosis by microglia/macrophages through Tyro3, Axl, and Mertk (TAM) receptors, the cluster of differentiation (CD) 36 receptor, the triggering receptor expressed on myeloid cells 2, and the signal regulatory protein α receptor; (2) clearance of hemolytic products through the hemoglobin-haptoglobin-CD163 and hemin-hemopexin-CD91 axes; and (3) glymphatic and meningeal lymphatic drainage. Pharmacological, genetic, and physical interventions targeting these pathways have demonstrated potential to enhance phagocytosis, promote glymphatic and meningeal lymphatic function, accelerate hematoma resolution, and improve neurological outcomes in ICH models. By leveraging the intrinsic clearance mechanisms of the intracerebral hematoma, this review highlights promising therapeutic targets and strategies to overcome current clinical limitations and demonstrates significant translational potential.