Alterations of the skin microbiome in multiple system atrophy: a pilot study.

Multiple system atrophy (MSA) alters skin physiology, potentially impacting skin microbiota. This pilot study investigated whether skin microbiota differs in MSA and whether these differences relate to disease severity. Using 16S rRNA sequencing of cervical and axillary sites in MSA, Parkinson's disease, and controls, we identified distinct microbial patterns among groups.

A meta-analysis of survival and prognostic factors in multiple system atrophy.

Background: Multiple-system atrophy is a rapidly progressive neurodegenerative disease with incomplete survival data, limiting the understanding of long-term outcomes. This study aimed to investigate a comprehensive data including survival time and prognostic factors.

Methods: Individual patient data were pooled from studies reporting Kaplan-Meier curves, and then, survival curves were generated.

Synaptic Density Reductions in MSA: A Potential Biomarker Identified Through [F]SynVesT-1 PET Imaging.

Objective: The objective of this study was to delineate synaptic density alterations in multiple system atrophy (MSA) and explore its potential role as a biomarker for MSA diagnosis and disease severity monitoring using [F]SynVesT-1 positron emission tomography / computed tomography (PET CT).

Methods: In this prospective study, 60 patients with MSA (30 patients with MSA-parkinsonian [MSA-P] subtype and 30 patients with MSA-cerebellar [MSA-C] subtype), 30 patients with Parkinson's disease (PD), and 30 age-matched healthy controls (HCs) underwent [F]SynVesT-1 PET/CT for synaptic density assessment. Visual, voxel, and volumetric region of interest (VOI) analyses were used to elucidate synaptic density patterns in the MSA brain and establish diagnostic criteria.

The characteristic and biomarker value of transcranial sonography in cerebellar ataxia.

Objective: Transcranial sonography (TCS) is a noninvasive neuroimaging technique, visualizing deep brain structures and the ventricular system. Although widely employed in diagnosing various movement disorders, such as Parkinson's disease and dystonia, by detecting disease-specific abnormalities, the specific characteristics of the TCS in cerebellar ataxia remain inconclusive. We aimed to assess the potential value of TCS in patients with cerebellar ataxias for disease diagnosis and severity assessment.

Peripheral Inflammatory and Immune Landscape in Multiple System Atrophy: A Cross-Sectional Study.

Background: Neuroinflammation might contribute to the pathogenesis of multiple systemic atrophy (MSA). However, specific alterations in the peripheral inflammatory and immune profiles of patients with MSA remain unclear.

Objectives: To determine the peripheral inflammatory and immune profiles of patients with MSA and their potential value as biomarkers for facilitating clinical diagnosis and monitoring disease severity.

No Correlation between Plasma GPNMB Levels and Multiple System Atrophy in Chinese Cohorts.

Background: Glycoprotein nonmetastatic melanoma protein B (GPNMB) has been demonstrated to mediate pathogenicity in Parkinson's disease (PD) through interactions with α-synuclein, and plasma GPNMB tended to be a novel biomarker for PD.

Objective: The goal of this study was to investigate whether plasma GPNMB could act as a potential biomarker for the clinical diagnosis and severity monitoring of multiple system atrophy (MSA), another typical synucleinopathy.

Methods: Plasma GPNMB levels in patients with MSA, patients with PD, and healthy control subjects (HCs) were quantified using enzyme-linked immunosorbent assays.

Diagnostic and prognostic performance of plasma neurofilament light chain in multiple system atrophy: a cross-sectional and longitudinal study.

Background: The longitudinal dynamics of neurofilament light chain (NfL) in multiple system atrophy (MSA) were incompletely illuminated. This study aimed to explore whether the plasma NfL (pNfL) could serve as a potential biomarker of clinical diagnosis and disease progression for MSA.

Methods: We quantified pNfL concentrations in both a large cross-sectional cohort with 214 MSA individuals, 65 PD individuals, and 211 healthy controls (HC), and a longitudinal cohort of 84 MSA patients.

Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography.

Background: Severe reduced synaptic density was observed in spinocerebellar ataxia (SCA) in postmortem neuropathology, but in vivo assessment of synaptic loss remains challenging. OBJECTIVE SPINOCEREBELLAR ATAXIA TYPE 3: The objective of this study was to assess in vivo synaptic loss and its clinical correlates in spinocerebellar ataxia type 3 (SCA3) patients by synaptic vesicle glycoprotein 2A (SV2A)-positron emission tomography (PET) imaging.

Methods: We recruited 74 SCA3 individuals including preataxic and ataxic stages and divided into two cohorts.

Serum vitamin levels in multiple system atrophy: A case-control study.

Aim: There is increasing evidence suggesting that vitamins may play important roles in the pathogenesis of multiple system atrophy (MSA). The purpose of this study was to detect the changes of serum vitamin levels and investigate their correlation with disease severity in MSA patients.

Methods: In this cross-sectional study, 244 MSA patients, 200 Parkinson's disease (PD) patients and 244 age-gender matched healthy controls were recruited.

Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.

Background: Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectual disability, microcephaly, coarse face and hypoplastic nail of the fifth digits. Heterozygous variants of different BAF complex-related genes were reported to cause CSS, including ARID1A and SMARCA4. So far, no CSS patients with ARID1A and SMARCA4 variants have been reported in China.