Journal Article

Case Record Survey (CRS)-2 was an international, multicenter, retrospective study designed to characterize the natural history of vision loss and spontaneous recovery in patients with Leber hereditary optic neuropathy (LHON).Case records of idebenone treatment-naïve patients aged ≥12 years, with mitochondrial DNA (mtDNA) variants m.3460G>A, m.11778G>A or m.14484 T>C, onset of symptoms (OoS) after 1999, and ≥2 visual acuity (VA) assessments within 5 years of OoS were analyzed. Disease phases were subacute/dynamic (≤1 year) or chronic (>1 year from OoS). [...]

High-resolution digital cognitive tools administered at frequent intervals enable the study of age-related cognitive change at a previously unattainable level of granularity. Computational modeling further enables the simultaneous examination of multiple aspects of cognitive performance.The objective of this study was to examine whether repeated digital multiday learning assessments can detect age-related cognitive decline over short time frames in cognitively unimpaired older adults and to quantify age-related differences in process-based cognitive markers derived from computational modeling.A total of 209 cognitively unimpaired older adults (mean age 73.6, SD 8.2 years; n=136, 65.1% female) from the Harvard Aging Brain Study and affiliated studies were administered the Boston Remote Assessment for Neurocognitive Health, which includes the face-name task, a paired associative learning task. [...]

Liver MRI plays a critical role in the diagnosis and monitoring of liver disease; however, image quality is often degraded by respiratory motion and noise, particularly in high-resolution and diffusion-weighted imaging. Propeller-based sequences such as BLADE improve motion robustness, but advanced reconstruction strategies are required to fully exploit their potential under accelerated conditions.We propose a phase-constrained zero-shot self-supervised learning (PC ZS-SSL) framework for BLADE liver MRI reconstruction. [...]

Extended reality (XR) encompasses various immersive technologies that enhance perception with virtual elements. Previous research has focused in particular on virtual reality-assisted exposure therapy but there are currently dynamic developments in terms of both content and structure of XR research for psychotherapy.This narrative review describes content-related, technical and structural developments in the research of XR applications for psychotherapy, as identified by members of the Extended Reality for Psychotherapy network.The use of mixed reality technologies and artificial intelligence was mentioned as well as the development and testing of creative therapeutic concepts beyond the classical exposure paradigm. [...]

Condensates at synapses organize synaptic vesicle (SV) clusters and are essential for efficient neurotransmitter release. While it is established that RNA granules traffic along axons, the function of RNA at the presynapse remains unclear. [...]

Molecular profiling studies have mapped vascular alterations in Alzheimer's disease, but have not proven a role for them in pathology. Longitudinal studies are needed to link molecular and structural changes to vascular mechanics, hemodynamics, and tissue perfusion..

Motor fluctuations frequently emerge within the first few years of levodopa treatment in Parkinson's disease (PD), increasing symptom burden and treatment complexity. While opicapone is an established adjunct therapy for motor fluctuations, its safety profile when initiated early in the course of fluctuating disease remains incompletely characterized.This pooled post-hoc analysis integrated individual patient-level data from two randomized, double-blind, placebo-controlled trials of opicapone 50 mg and their open-label extensions. [...]

Electroconvulsive therapy (ECT) is an effective treatment for major depressive disorder (MDD). Retrograde autobiographical memory impairment is considered one of the clinically relevant adverse effects of ECT; however, no validated German instrument is available to assess autobiographical memory. [...]

Clinical heterogeneity in amyotrophic lateral sclerosis (ALS) may reflect structured disease trajectories. This study investigated whether anatomically defined motor phenotypes capture reproducible patterns associated with progression, serum neurofilament light chain (NfL), and survival.In a multicenter cohort of 1307 ALS patients, motor phenotypes were classified by region of onset, timing of propagation to a vertically distant body region (early ≤ 12 months vs. [...]

Plasma β-synuclein is a promising blood-based synaptic biomarker, but relationships with synaptic density as indicated by [11C]UCB-J positron emission tomography (PET), and blood biomarkers of Alzheimer's disease (AD) pathology, neurodegeneration, and astrocyte activation need further characterization.Middle-aged and older adults with and without cognitive impairment (N = 83 total, 68.7% cognitively unimpaired) underwent blood draw, PET imaging, and neuropsychological testing. Primary analyses focused on relationships between plasma β-synuclein and synaptic density, and associations with related plasma biomarkers (tau phosphorylated at threonine 217 [p-tau217], brain-derived tau [BD-tau], glial fibrillary acidic protein [GFAP], and neurofilament light chain [NfL]).Plasma β-synuclein levels were higher in cognitively unimpaired and impaired participants with positive amyloid PET. [...]