Full Text Collection

Neonatal hypoxia-ischemia (HI) remains a major global cause of neonatal morbidity and mortality. To develop effective therapeutic strategies, a deeper understanding of the acute inflammatory processes following HI is required. [...]

The conversion of native prion protein (PrP) into its misfolded isoform, scrapie (PrPSc) and its intracellular accumulation represent central events in the pathogenesis of prion diseases. Reduction of native PrP in the central nervous system (CNS) has emerged as a promising strategy for treatment and prevention of prion diseases in humans. [...]

Psychosocial interventions are essential to support people living with dementia and their carers. A consensus on what is most important for research on psychosocial intervention in dementia and how intervention studies should best be conducted is currently lacking. [...]

Cardiac autonomic neurons regulate contractility. Autonomic nervous system dysregulation can cause sympathetic overdrive, leading to heart failure, and fatal arrhythmias. [...]

Plasma pTau217 is a leading biomarker for Alzheimer's disease, but evidence from genetically admixed populations in low- and middle-income countries remains limited. We evaluated the diagnostic performance of pTau217 and pTau217/Aβ42 measured using Simoa technology in memory-clinic cohorts from Brazil (Cog-Aging-Study, n = 353) and Argentina (GeNED.ar, n = 134). [...]

Spinal muscular atrophy (SMA) comprises a spectrum of clinical severities, yet the pathomechanisms of late-onset forms (Type III) remain insufficiently understood. While severe early-onset SMA has been extensively investigated using existing models, their translational relevance to adult disease is limited. [...]

A growing number of identified genes increasingly reveal genetic overlaps between neurodevelopmental disorders and combined dystonia syndromes.We report a 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral palsy for 40 years. Whole-exome sequencing identified a novel heterozygous pathogenic frameshift variant in TBL1XR1.TBL1XR1 variants are classically associated with Pierpont syndrome and autism spectrum disorder. [...]

Subjective cognitive decline (SCD) refers to cognitive concerns that may occur with or without objective impairment on standardized testing. Studies suggest that SCD may be an early clinical marker of Alzheimer's disease and related dementias, and that it can predict future objective cognitive decline and progression to dementia. [...]

Isolated rapid eye movement sleep behavior disorder (iRBD) is a major prodromal marker of α-synucleinopathies, often preceding the clinical onset of Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. While wrist-worn actimeters hold significant potential for detecting RBD in large-scale screening efforts by capturing abnormal nocturnal movements, they require a reliable and efficient analysis pipeline. [...]

γ-Secretase is a pivotal membrane-embedded protease that cleaves more than 150 single-span membrane proteins within their transmembrane domains. While γ-secretase is involved in a wide range of physiological processes, it is best known for its critical role in Alzheimer's disease, where it cleaves a C-terminal fragment of the amyloid precursor protein into small aggregation-prone and neurotoxic peptides. [...]