The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.

Background: The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.

A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy.

Background: Patients with Progressive Supranuclear Palsy (PSP) suffer from several neuropsychological impairments. These mainly affect the frontal lobe and subcortical brain structures. However, a scale for the assessment of cognitive and neuropsychiatric disability in PSP is still missing.

Prospective Multicenter Evaluation of the MDS "Suggestive of PSP" Diagnostic Criteria.

Background: The recent Movement Disorders Society (MDS)-progressive supranuclear palsy (PSP) diagnostic criteria conceptualized three clinical diagnostic certainty levels: "suggestive of PSP" for sensitive early diagnosis based on subtle clinical signs, "possible PSP" balancing sensitivity and specificity, and "probable PSP" highly specific for PSP pathology.

Objective: The aim of this study was to prospectively validate the criteria against long-term clinical follow-up and characterize the diagnostic certainty increase over time.

Methods: Patients with "possible PSP" or "suggestive of PSP" diagnosis and clinical follow-up were recruited in two German multicenter longitudinal observational studies (ProPSP and DescribePSP).

Early Prediction of Abdominal Aortic Aneurysm Rupture Risk Using Numerical Biomechanical Analysis.

: We aimed to predict patient-specific rupture risks and growth behaviors in abdominal aortic aneurysm (AAA) patients using biomechanical evaluation with finite element analysis to establish an additional AAA repair threshold besides diameter and sex. : A total of 1219 patients treated between 2005 and 2024 (conservative and repaired AAAs) were screened for a pseudo-prospective single-center study. A total of 15 ruptured (rAAA) vs.

Contributions of countries without a carbon neutrality target to limit global warming.

Bioenergy with carbon capture and storage (BECCS) is a key negative emission technology for climate mitigation. Some countries have made no commitment to carbon neutrality but are viewed as potential BECCS candidates (hereafter, non-CN countries). Here we analyze contributions of these countries to global climate mitigation with respect to BECCS using an Earth system model with explicit representations of bioenergy crops.

Fracture properties of porcine versus human thoracic aortas from tricuspid/bicuspid aortic valve patients via symmetry-constraint Compact Tension testing.

Aneurysm rupture is a life-threatening event, yet its underlying mechanisms remain largely unclear. This study investigated the fracture properties of the thoracic aneurysmatic aorta (TAA) using the symmetry-constraint Compact Tension (symconCT) test and compared results to native and enzymatic-treated porcine aortas' tests. With age, the aortic stiffness increased, and tissues ruptured at lower fracture energy [Formula: see text].

The cellular and extracellular proteomic signature of human dopaminergic neurons carrying the LRRK2 G2019S mutation.

Background: Extracellular vesicles are easily accessible in various biofluids and allow the assessment of disease-related changes in the proteome. This has made them a promising target for biomarker studies, especially in the field of neurodegeneration where access to diseased tissue is very limited. Genetic variants in the LRRK2 gene have been linked to both familial and sporadic forms of Parkinson's disease.

Future land carbon removals in China consistent with national inventory.

China's commitment to carbon neutrality by 2060 relies on the Land Use, Land-Use Change, and Forestry (LULUCF) sector, with forestation targets designed to enhance carbon removal. However, the exact sequestration potential of these initiatives remains uncertain due to differing accounting conventions between national inventories and scientific assessments. Here, we reconcile both estimates and reassess LULUCF carbon fluxes up to 2100, using a spatially explicit bookkeeping model, state-of-the-art historical data, and national forestation targets.

GFAP and NfL as fluid biomarkers for clinical disease severity and disease progression in multiple system atrophy (MSA).

Background: Multiple system atrophy (MSA), an atypical parkinsonian syndrome, is a rapidly progressive neurodegenerative disease with currently no established fluid biomarkers available. MSA is characterized by an oligodendroglial α-synucleinopathy, progressive neuronal cell loss and concomitant astrocytosis. Here, we investigate glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) as fluid biomarkers for differential diagnosis, assessment of clinical disease severity and prediction of disease progression in MSA.

Tissue Factor and Its Cerebrospinal Fluid Protein Profiles in Parkinson's Disease.

Background: Prior investigations have elucidated pathophysiological interactions involving blood coagulation and neurodegenerative diseases. These interactions pertain to age-related effects and a mild platelet antiaggregant function of exogenous α-Synuclein.

Objective: Our study sought to explore whether cerebrospinal fluid (CSF) levels of tissue factor (TF), the initiator of the extrinsic pathway of hemostasis, differ between controls (CON) compared to patients with Parkinson's disease (PD) and dementia with Lewy bodies (DLB), considering that these conditions represent a spectrum of α-Synuclein pathology.

The White Matter Fiber Tract Deforms Most in the Perpendicular Direction During Volunteer Impacts.

White matter (WM) tract-related strains are increasingly used to quantify brain mechanical responses, but their dynamics in live human brains during impact conditions remain largely unknown. Existing research primarily looked into the normal strain along the WM fiber tracts (i.e.

Transcriptomic changes in oligodendrocytes and precursor cells associate with clinical outcomes of Parkinson's disease.

Several prior studies have proposed the involvement of various brain regions and cell types in Parkinson's disease (PD) pathology. Here, we performed snRNA-seq on the prefrontal cortex and anterior cingulate regions from a small cohort of post-mortem control and PD brain tissue. We found a significant association of oligodendrocytes (ODCs) and oligodendrocyte precursor cells (OPCs) with PD-linked risk loci and report several dysregulated genes and pathways, including regulation of tau-protein kinase activity, regulation of inclusion body assembly and protein processing involved in protein targeting to mitochondria.

Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.

Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale.

Objective: To identify the multi-ancestry spectrum of monogenic PD.

Methods: The first systematic approach to embrace monogenic PD worldwide, The Michael J.

Association of elevated cerebrospinal fluid levels of the longevity protein α-Klotho with a delayed onset of cognitive impairment in Parkinson's disease patients.

Background And Purpose: Parkinson's disease (PD) is an age-related condition characterized by substantial phenotypic variability. Consequently, pathways and proteins involved in biological aging, such as the central aging pathway comprising insulin-like growth factor 1-α-Klotho-sirtuin 1-forkhead box O3-peroxisome proliferator-activated receptor γ, may potentially influence disease progression.

Methods: Cerebrospinal fluid (CSF) levels of α-Klotho in 471 PD patients were examined.

Kinetic isotope effects on hydrogen/deuterium disordering and ordering in ice crystals: A Raman and dielectric study of ice VI, XV, and XIX.

Ice XIX and ice XV are both partly hydrogen-ordered counterparts to disordered ice VI. The ice XIX → XV transition represents the only order-to-order transition in ice physics. Using Raman and dielectric spectroscopies, we investigate the ambient-pressure kinetics of the two individual steps in this transition in real time (of hours), that is, ice XIX → transient ice VI (the latter called VI‡) and ice VI‡ → ice XV.

Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.

Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we show that plasma extracellular vesicles (EVs) contain quantifiable amounts of TDP-43 and full-length tau, which allow the quantification of 3-repeat (3R) and 4-repeat (4R) tau isoforms. Plasma EV TDP-43 levels and EV 3R/4R tau ratios were determined in a cohort of 704 patients, including 37 genetically and 31 neuropathologically proven cases.

Peak wall rupture index is associated with risk of rupture of abdominal aortic aneurysms, independent of size and sex.

Background: Information on the predictive determinants of abdominal aortic aneurysm rupture from CT angiography are scarce. The aim of this study was to investigate biomechanical parameters in abdominal aortic aneurysms and their association with risk of subsequent rupture.

Methods: In this retrospective study, the digital radiological archive was searched for 363 patients with ruptured abdominal aortic aneurysms.

Configurational entropy of ice XIX and its isotope effect.

Ice XIX is a partly hydrogen-ordered polymorph related to disordered ice VI, similar to ice XV. We here investigate the order-order-disorder sequence ice XIX→ice XV→ice VI based on calorimetry at ambient pressure both for DO and HO-ice XIX. From these data we extract configurational entropy differences between ice XIX, ice XV and ice VI.