Journal Article

Transformation in the neurosciences in biomarkers is enabling novel therapeutic strategies targeting earlier stages of disease prior to onset of clinical symptoms. Emerging progress in the area of synucleinopathies, including Parkinson's disease (PD) and dementia with Lewy bodies (DLB) have significant implications for clinical trials. [...]

BackgroundThe Parkinson's Disease (PD) Home Diary (HD) is a common clinical outcome measure, but studies show only fair agreement between clinical observer and patient assessments, with no significant improvement after patient training.ObjectivesTo investigate the agreement between a clinical observer and relatives of PD patients when assessing the patient's motor status in the HD. Agreement was also assessed for relative-patient and patient-observer pairs.MethodsThis observational study included 28 PD patients with motor fluctuations and their relatives. [...]

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. [...]