Journal Article

To examine the value of MRI outcomes as endpoints for preventive and early-stage trials of two polyglutamine spinocerebellar ataxias (SCAs).A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene-negative controls) was scanned at 3T up to 6 times (median follow-up 3 years) in the READISCA study. Structural, microstructural, and neurochemical outcomes were assessed for sensitivity to change. [...]

Narcolepsy type 1 (NT1) is caused by the loss of hypocretin-1 leading to excessive daytime sleepiness and cataplexy. Additionally, disrupted nighttime sleep has become an increasingly recognized feature of NT1. [...]

Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician-reported outcome that measures ataxia severity at a single time point. [...]

Accurate differentiation between mild and moderate dementia is increasingly important, particularly as amyloid-targeting therapies are restricted to early disease stages. Functional impairment in instrumental activities of daily living is a hallmark of progression beyond mild dementia. [...]

Delirium is a common geriatric syndrome. However, there is a lack of primary data regarding the prevalence of delirium in German nursing homes. [...]

Post-stroke pain (PSP) affects nearly half of stroke survivors, severely compromising quality of life. The causes of PSP remain underexplored, although there is likely a complex interplay of lesion effects, psychological factors, and mobility that play a role in its development. [...]

Lecanemab approval in the European Union (EU) was granted after a delay. This delay resulted in concerns from many stakeholders, but attitudes of patients with early symptomatic Alzheimer's disease receiving specialist memory-clinic care remained insufficiently assessed. [...]

Bilophila wadsworthia, a sulfite-reducing bacterium stimulated by bile acids and enriched under high-fat diets, has been linked to several neurological disorders involving disturbances of motor function and basal ganglia circuitry. However, its potential association with alterations of brain structure remains unclear. [...]

Metabolomic analyses are increasingly applied in both etiological and predictive research, but frequently report missing values, which are then either imputed or removed from the analyses, and not examined as true missingness due to altered metabolism. We hypothesized that interindividual genetic variation may account for part of this missingness.We perform a logistic GWAS of metabolite missingness from an untargeted mass spectrometry-based platform in the Netherlands Epidemiology of Obesity Study (N = 594) and the Rhineland Study (N = 4,165). [...]

Neurons acquire polarity by specifying one neurite as the axon, whereas the others become dendrites. But how this fundamental asymmetry is established remains unclear1. [...]