Documents in Process

Protein misfolding and aggregation is a major pathological hallmark in a variety of human conditions, including cancer, diabetes, and neurodegeneration. However, we still do not fully understand the role of protein accumulation in disease. [...]

Synucleins α, β, and γ are inherently disordered proteins that play essential roles in neuronal physiology and are increasingly recognized as key players in neurodegenerative disease mechanisms. The molecular basis of synucleinopathies, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy, is the pathological aggregation and misfolding of synucleins. [...]

High altitude airline travel can have various effects on health in normal subjects. The effect of airline long distance travelling at high altitude on Parkinson's disease is not clearly known, and occasional reports suggest that after long-haul flights parkinsonian motor and aspects of nonmotor states may worsen temporarily. [...]

Thalamic subregions are commonly, but variably, affected by different forms of frontotemporal dementia. We aimed to better characterize thalamic subregional involvement in genetic frontotemporal dementia with a recently published thalamus segmentation tool that utilizes structural and diffusion MRI, offering additional assessment of mean diffusivity and a more fine-grained analysis of the pulvinar specifically compared to previous studies. [...]

Alzheimer's disease (AD) is presented as multiple clinical variants depending upon the rate of progression and familial background; however, the exact molecular mechanisms associated with these subtypes and their treatments are yet to be understood. The current study is based on a global proteome analysis of brain samples from patients (n = 38) with rapidly progressive AD (rpAD-survival time < 3 years), sporadic AD (spAD-survival time of 8-10 years), and healthy controls. [...]

Magnetic resonance imaging (MRI) plays a crucial role alongside clinical and neuropsychological assessments in diagnosing dementia. The recent and ongoing advancements in MRI technology have significantly enhanced the detection and characterization of the specific neurostructural changes seen in various neurodegenerative diseases, thereby significantly increasing the precision of diagnosis. [...]

Early onset parkinsonism caused by F-box only protein7 (FBXO7) pathogenic variants is a rare autosomal recessive disorder presenting with a combination of parkinsonism, pyramidal signs, dystonia, cognitive impairment, and psychiatric features. Although previous case reports have mentioned neuroimaging findings, there is no comprehensive study characterizing the radiological spectrum of FBXO7 pathogenic variants.Ten patients from seven families followed at two tertiary centers in Turkey were included. [...]

Robust and highly sensitive outcomes are crucial for small trials in rare diseases. Combining different outcome types might improve sensitivity to identify disease severity and progression, yet innovative methodologies are scarce. [...]

Mutations in genes that control epigenetic gene expression, especially the machinery that controls Histone 3 lysine 4 (H3K4me) methylation, are over-represented in intellectual disability disorders. It is mediated by both lysine methyltransferases and demethylases. [...]