Frontiers in Human Neuroscience | Brain Health and Clinical Neuroscience section | New and Recent Articles

Background A 27-year-old male with perinatal hypoxia presented with global developmental delay, progressive hearing loss, ataxia, dysarthria, and intellectual disability. Whole-exome sequencing revealed compound heterozygous ACAD9 variants: c.456del (p.Ile153Serfs*46) and c.869G > A (p.Gly290Glu). Brain MRI showed bilateral cerebellar atrophy and a prominent cisterna magna. OCT confirmed optic at…

The SCN8A gene encodes the voltage-gated sodium channel NaV1.6, which is essential for neuronal excitability and action potential propagation. SCN8A variants are associated with a broad clinical spectrum, ranging from self-limiting syndromes to developmental and epileptic encephalopathies. Here, we identified a novel de novo heterozygous SCN8A variant (c.791 T > C/p.Val264Ala) in a 19-year-old fe…

BackgroundDementia prevalence is projected to rise most sharply in low-and middle-income countries, including Brazil. The Brazilian Black population (including individuals identified as Black and Brown) represents 56.5% of the population and is expected to comprise most older adults in the coming decades.AimsThis narrative review aims to synthesize studies on dementia, cognitive decline, and cogn…