Association of a Healthy Lifestyle with Risk of Parkinson's Disease and Genetic Predisposition.

Background: Parkinson's disease (PD) is the second most common neurodegenerative disease with largely unknown etiology. Evaluating the association between a healthy lifestyle with PD and genetic risk is necessary.

Methods: The study included 438,241 participants from UK Biobank, with lifestyle information collected via baseline questionnaires.

Subthalamic deep brain stimulation in isolated generalised or segmental dystonia (RELAX Study): a multicentre, randomised, double-blind, controlled trial.

Background: The safety and effectiveness of deep brain stimulation of the subthalamic nucleus (STN-DBS) for the treatment of dystonia lack high-level evidence-based medical support. This study aimed to clarify the efficacy and safety of STN-DBS and perform a post hoc analysis comparing it with DBS of the internal globus pallidus (GPi-DBS).

Methods: This multicentre, randomised, double-blind, controlled trial included 67 patients aged 6-60 years old diagnosed with genetic or idiopathic isolated generalised or segmental dystonia.

Clinical and genetic characteristics of -related parkinsonism in Southwest China and a comprehensive literature review.

Background: Biallelic mutations are associated with early onset autosomal recessive parkinsonism, exhibiting a broad spectrum of clinical heterogeneity.

Objective: To comprehensively characterise the clinical, imaging and genetic features of -related parkinsonism.

Methods: We report 14 new cases of -related parkinsonism in Southwest China and conduct a systematic literature review.

Serum creatinine to cystatin C ratio as monitoring biomarker in Chinese adult spinal muscular atrophy: a prospective cohort study.

Background: The creatinine to cystatin C ratio (CCR) can be used as a biomarker of muscle mass and strength, but no studies have evaluated whether it can be used as a biomarker to monitor the efficacy of treatment with nusinersen in Chinese adults with 5q-associated spinal muscular atrophy (SMA).

Methods: In this prospective observational study, 28 adult SMA patients were followed for 18 months. Data on motor function and daily activities were collected using the Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), 6-Minute Walking Test (6WMT), and Barthel Index (BI).

Association between sleep and ALS-FTSD: A Prospective Cohort Study based on 396,918 UK biobank participants.

Amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD) is a fatal neurodegenerative condition, and identifying its modifiable risk factors is a critical public health issue. This large-scale prospective cohort study investigated the role of sleep-related factors in ALS-FTSD risk using data from 396,918 UK Biobank participants. Eight sleep-related exposures were assessed, and Cox proportional hazards regression was employed to evaluate their associations with ALS-FTSD incidence.

The Role of Machine Learning in Cognitive Impairment in Parkinson Disease: Systematic Review and Meta-Analysis.

Background: Parkinson disease (PD) is a common neurodegenerative disease characterized by both motor and nonmotor symptoms. Cognitive impairment often occurs early in the disease and can persist throughout its progression, severely impacting patients' quality of life. The utilization of machine learning (ML) has recently shown promise in identifying cognitive impairment in patients with PD.

Motor-Cognitive Dual-Task Cost and Associated Micro Lesions of Cerebellum and Brainstem in Multiple System Atrophy (Parkinsonian Type).

In multiple system atrophy with parkinsonian type (MSA-P), the dual-task cost and the underlying neurological mechanisms remain under-researched. We included 20 early-stage MSA-P patients and 10 matched healthy controls (HC). Using a video-based gait analysis machine, we explored gait characteristics under three conditions: single-task gait (STG), dual-task gait with backward counting (DTG-BC), and dual-task gait with spontaneous animal naming (DTG-SAN).

The potential use of plasma NfL as a diagnostic and prognostic biomarker of fatigue in early Parkinson's disease.

Background: Fatigue is a prevalent non-motor symptom that often appears in the early stages of Parkinson's disease (PD). Plasma neurofilament light chain (NfL) was elevated in PD patients and may be considered a potential biomarker for both motor and cognitive progression.

Objectives: In this study, we explored the association between plasma NfL levels and various fatigue subtypes and the prediction of baseline plasma NfL levels for fatigue subtype conversion.

Sequential administration of efgartigimod shortened the course of Guillain-Barré syndrome: a case series.

Guillain-Barré syndrome (GBS) is a serious neurological condition with limited treatment options. A recent report demonstrated successful treatment with efgartigimod alone in two patients with GBS, although it did not significantly shorten the disease duration. This case series investigates the effects of sequential efgartigimod administration in patients with different GBS phenotypes and varying levels of disease severity.

Genetic insights and therapeutic avenues: unraveling the role of polyunsaturated fatty acids as mediators between hypothyroidism and Von Willebrand disease through Mendelian randomization.

Background: Previous observational studies have shown that Hypothyroidism is associated with Von Willebrand Disease (VWD), but the causal relationship has not been confirmed because of conflicting findings and confounding by mixing factors. There are also some studies suggesting that polyunsaturated fatty acids (PUFA) may be one of the potential mediators. In this study, we used a Mendelian randomization study to analyze the causal relationship between Hypothyroidism and VWD and to investigate whether polyunsaturated fatty acids mediate the effects of Hypothyroidism on VWD.

Identification of risk factors and development of a predictive nomogram for sarcopenia in Alzheimer's disease.

Introduction: Sarcopenia, with its complex diagnostic process, is a likely independent predictor of poor prognosis in patients with Alzheimer's disease (AD). However, research on the clinical characteristics and biomarkers of AD patients with sarcopenia (ADSA) is limited.

Methods: This study included 180 ADSA and 188 AD patients without sarcopenia (ADNSA), and evaluated demographics, cognitive function, motor capacity, emotional state, and daily living abilities.

Diagnostic value and correlation analysis of serum cytokine levels in patients with multiple system atrophy.

Background: The association between cytokines in peripheral blood and clinical symptoms of multiple system atrophy (MSA) has been explored in only a few studies with small sample size, and the results were obviously controversial. Otherwise, no studies have explored the diagnostic value of serum cytokines in MSA.

Methods: Serum cytokines, including interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor alpha (TNF-α), were measured in 125 MSA patients and 98 healthy controls (HCs).

Comparison of spontaneous brain activity in distinguishing parkinsonian variant of multiple system atrophy from Parkinson's disease at an early stage.

Background: The overlapping clinical manifestations in parkinsonian variant of multiple system atrophy (MSA-P) and Parkinson's Disease (PD) can complicate clinical diagnostic accuracy, particularly in the early stage. The study aims to uncover the patterns of brain function in the initial phase of the two conditions.

Methods: We recruited 24 MSA-P patients, 34 PD patients and 27 healthy controls (HC).

Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China.

Background: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterised by progressive degeneration of motor neurons. Genetic factors have a substantial impact on ALS. Therefore, this study aimed to explore the correlation between genotype () and phenotype in ALS.

Peripheral immunity involvement in the cognitive impairment of sporadic amyotrophic lateral sclerosis.

Background: Recent research has indicated the significance of immune activation in amyotrophic lateral sclerosis (ALS). However, the impact of peripheral immunity on cognitive impairment in sporadic ALS remains poorly characterized. Therefore, we aim to assess the relationship between peripheral immune parameters and cognitive impairment in patients with sporadic ALS.

GWAS Identifies DPP6 as Risk Gene of Cognitive Decline in Parkinson's Disease.

Background: Cognitive decline is among the most common non-motor symptoms in Parkinson's disease (PD), while its physiological mechanisms remain poorly understood. Genetic factors constituted a fundamental determinant in the heterogeneity of cognitive decline among PD patients. However, the underlying genetic background was still less studied.

Calcium channel blockers and Parkinson's disease: a systematic review and meta-analysis.

Background: The calcium channel has been considered to have great potential as a drug target for neuroprotective therapy in Parkinson's disease (PD), but previous studies yielded inconsistent results.

Objectives: This study aimed to conduct a systematic review and meta-analysis to assess the relationship between using calcium channel blockers (CCBs) and the risk and progression of PD.

Data Sources And Methods: The terms such as 'Parkinson's disease', 'PD', 'calcium channel blockers', and 'CCB' were used to search the literature published before 1 May 2023 in English databases, including PubMed, Embase, and Cochrane Library, for studies on CCB and PD.

Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review.

Myotonic dystrophy (DM) encompasses a spectrum of neuromuscular diseases characterized by myotonia, muscle weakness, and wasting. Recent research has led to the recognition of DM as a neurological disorder. Cognitive impairment is a central nervous system condition that has been observed in various forms of DM.

Longitudinal Evolution and Plasma Biomarkers for Excessive Daytime Sleepiness in Parkinson's Disease.

Background: Excessive daytime sleepiness (EDS) is one of the most frequent nonmotor symptoms in Parkinson's disease (PD); however, the pathogenesis of EDS is unclear, and there is a lack of information on plasma biomarkers for EDS in PD. We aimed to investigate the plasma biomarkers of EDS in a large PD cohort.

Methods: A total of 159 PD patients were included in the prospective cohort study and followed up annually for 3 years.

Plasma GFAP as a prognostic biomarker of motor subtype in early Parkinson's disease.

Parkinson's disease (PD) is a heterogeneous movement disorder with different motor subtypes including tremor dominant (TD), indeterminate and postural instability, and gait disturbance (PIGD) motor subtypes. Plasma glial fibrillary acidic protein (GFAP) was elevated in PD patients and may be regarded as a biomarker for motor and cognitive progression. Here we explore if there was an association between plasma GFAP and different motor subtypes and whether baseline plasma GFAP level can predict motor subtype conversion.

Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis.

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Abnormalities in the peripheral immune system in ALS have been paid attention; however, the results of changes in peripheral immune parameters were inconsistent.

Methods: A total of 1109 ALS patients were enrolled in the study.

Cystatin C is associated with poor survival in amyotrophic lateral sclerosis patients.

Background: Cystatin C (CysC) levels in amyotrophic lateral sclerosis (ALS) have been found changes, however, the associations between serum CysC levels and the progression and survival of ALS remain largely unknown.

Methods: A total of 1,086 ALS patients and 1,026 sex-age matched healthy controls (HCs) were enrolled in this study. Serum CysC, other renal function, and metabolic parameters were measured.