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Abstract Background ADAM10 and ADAM17, members of the membrane-bound disintegrin metalloproteinase (ADAM) family, act as α-secretases in the non-amyloidogenic processing of the amyloid precursor protein. While alteratio...

Abstract Postoperative neurocognitive disorder (PND) is a frequent complication in elderly surgical patients and is closely associated with blood-brain barrier (BBB) disruption and cerebral metabolic imbalance. The prese...

Abstract Background Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating multisystem disease characterized by heterogeneous symptom patterns. Previous work suggested that specific symptoms tend t...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...

Abstract Background Iodine plays a critical role in producing thyroid hormones essential for brain development. An imbalance of iodine, whether deficiency or excess, can disrupt thyroid function. Iodine-induced hypothyro...

Abstract Background and purpose Claudin-5 plays a crucial role in maintaining blood-brain barrier (BBB) integrity through endothelial tight junction formation. Alternative splicing of claudin-5 within the microvascular e...

Abstract Background Subcortical structures are pivotal for cortico-subcortical communication, yet are highly vulnerable to stroke. Damage to these structures can produce widespread cortical dysfunction, but how subcortic...

Abstract Background Patients with hypermobile Ehlers-Danlos Syndrome (hEDS) are at risk of developing craniocervical instability (CCI). Iatrogenic causes of CCI in hEDS are underreported. We describe a case series of hED...

Abstract Background Duchenne muscular dystrophy (DMD) results from mutations in the DMD gene, which differentially affect dystrophin isoforms (Dp427, Dp260, Dp140, Dp71) expressed in distinct brain and retinal cell types...

Abstract Background Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with rising global prevalence. Current management strategies predominantly address behavioral symptoms rather than core neurobi...

Abstract Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has caused a major global health burden in terms of acute infection and long-term consequences. Approx...

Abstract Mutations in the presenilin (PS/PSEN) genes cause early-onset familial Alzheimer’s disease (AD) by enhancing cerebral accumulation of amyloid-β (Aβ) peptides and microtubule-associated protein tau (MAPT). Ho...

Abstract Pathogenic variants in CYFIP2 cause developmental and epileptic encephalopathy 65 (DEE65) and have been predominantly investigated in the context of central nervous system dysfunction. However, emerging clinical...