Long-read sequencing and the evolving landscape of facioscapulohumeral muscular dystrophy diagnosis
New scientific commentary by Emiliano Giardina & Claudia Strafella shorturl.at/Bb9aI
Alexopoulos et al. consider whether adding thalamic electrodes during SEEG improves patient outcomes, and conclude that the evidence remains limited and heterogeneous. They recommend cautious use within trials until the benefits and risks are known. shorturl.at/M0dKL
Bellanti et al. find that patients with Guillain-Barré syndrome show heightened antibody responses to human adenoviral proteins compared with controls, suggesting that adenoviruses may be causally associated with GBS. shorturl.at/JyKLI
Tsang et al. review 13 studies combining TMS with intracranial EEG in humans and non-human primates. They find that stimulation can rapidly alter neuronal activity and connectivity, with some effects persisting for extended periods. shorturl.at/OWMc8
Using iPSC-derived cortical spheroids & neuron-astrocyte co-cultures, Requena Osete et al. reveal astrocyte dysregulation in schizophrenia, including abnormal distribution driven by the cytokine MIF. Inhibition of MIF reduces astrocyte dysregulation. shorturl.at/Yebb4
Arnaboldi et al. outline key principles for studying infection-associated chronic illnesses, including post-treatment Lyme disease syndrome and long COVID. shorturl.at/1I0uC
Georgieva et al. investigate whether low-dose interleukin-2 can expand regulatory T cells (‘peacekeeping’ immune cells) to reduce autoimmune complications after alemtuzumab treatment in multiple sclerosis. shorturl.at/eVrr2
In a multiple sclerosis model, Zhang et al. show that the immune checkpoint protein TIM-3 promotes remyelination by helping macrophages clear myelin debris through the regulation of lysosomal function. shorturl.at/0XRyx
Carli et al. show that periventricular white matter lesions contribute to cognitive decline in Parkinson’s disease by disrupting cholinergic projections from the basal forebrain. shorturl.at/laVNY
Di Pede et al. show that advancing ALS motor stages are associated with less metabolic connectivity in sensorimotor & cognitive areas, with stage-specific changes involving temporal & cerebellar regions. 18F-FDG-PET may complement King's staging in trials. shorturl.at/pWfL5
Goh et al. find that the prognostic value of clinical indicators in MSA evolves over the disease course, with implications for clinical planning, patient counselling and future trial stratification. shorturl.at/UKsV3
Forget processing speed: cognitive changes in multiple sclerosis call for new measurement tools
New scientific commentary by Victoria Leavitt shorturl.at/njWNo
Functional seizures in children highlight a gap between ideal care models & real-world practice. Parikh et al. discuss the role of paediatric neurologists in helping families navigate diagnosis and uncertainty when multidisciplinary care is hard to access. shorturl.at/npnDP
Cox, Jr et al. report that infusion of autologous adipose-derived mesenchymal stromal cells is safe & feasible in patients with chronic TBI, and is associated with improvements in brain microstructure, reduced neuroinflammation, and a decrease in symptoms. shorturl.at/tj0wS
Glessner et al. analysed genetic data from >72,000 children and found that ADHD patients with comorbid neurodevelopmental conditions are enriched for copy number variants in mGluR-interacting genes, suggesting a shared underlying genetic pathway. shorturl.at/GyA4B
Doorn et al. show that EEG burst suppression reflects reduced brain network complexity, with severe disruption producing stereotyped activity linked to poor outcomes, while partial preservation produces more varied reversible patterns, as in anaesthesia. shorturl.at/xiip6
SPG4 shows marked clinical heterogeneity. Alecu et al. report that missense variants at essential spastin sites—often de novo—cause severe early-onset disease, while variants at non-essential sites are associated with milder, later-onset disease. shorturl.at/ELEPC
Sporn et al. find that while stroke survivors remain motivated by rewards, their ability to learn which actions lead to rewards is impaired. The findings reveal new ways to tailor rehabilitation to improve recovery. shorturl.at/OMP0B