Association between regular physical activity and biomarker changes in early Parkinson's disease patients.

Introduction: Physical activity benefits patients with Parkinson's disease (PD) and is assumed to possess disease-modifying potential. PD-related biomarkers, such as dopamine transporter (DAT) imaging and cerebrospinal fluid (CSF) α-synuclein (α-syn) and amyloid β (Aβ), correlate with disease severity and, to some extent, reflect disease progression and pathology. However, the association between regular physical activity and PD biomarker changes remains unknown.

Association between regular physical activity and biomarker changes in early Parkinson's disease patients.

Introduction: Physical activity benefits patients with Parkinson's disease (PD) and is assumed to possess disease-modifying potential. PD-related biomarkers, such as dopamine transporter (DAT) imaging and cerebrospinal fluid (CSF) α-synuclein (α-syn) and amyloid β (Aβ), correlate with disease severity and, to some extent, reflect disease progression and pathology. However, the association between regular physical activity and PD biomarker changes remains unknown.

Association of Concurrent Olfactory Dysfunction and Probable Rapid Eye Movement Sleep Behavior Disorder with Early Parkinson's Disease Progression.

Background: Parkinson's disease (PD), with either rapid eye movement sleep behavior disorder (RBD) or olfactory dysfunction (OD), has been associated with disease progression. However, there is currently heterogeneity in predicting prognosis.

Objectives: To identify whether the concurrent presence of OD and probable RBD (pRBD) in PD (Dual hit in PD, PD-DH) is associated with disease progression.

Aquaporin-4 Polymorphisms Are Associated With Cognitive Performance in Parkinson's Disease.

Objective: Aquaporin-4 (AQP4) facilitates a sleep-enhanced interstitial brain waste clearance system. This study was conducted to determine the clinical implication of polymorphisms in Parkinson's disease (PD).

Methods: Three-hundred and eighty-two patients with PD and 180 healthy controls with a mean follow-up time of 66.

Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China.

Background: Parkinson's disease (PD) and dystonia are closely related in terms of pathophysiology and clinical manifestations, but their common genetic characteristics remain unclear. Some genome-wide association studies (GWASs) and replication studies have revealed correlations between single nucleotide polymorphisms (SNPs) of the genes and dystonia. This study was conducted to assess the association between these genetic loci and PD in a population from Eastern China.

Associations of Body Mass Index-Metabolic Phenotypes with Cognitive Decline in Parkinson's Disease.

Background: Growing evidence suggests important effects of body mass index (BMI) and metabolic status on neurodegenerative diseases. However, the roles of BMI and metabolic status on cognitive outcomes in Parkinson's disease (PD) may vary and are yet to be determined.

Methods: In total, 139 PD patients from the whole PD cohort in Parkinson's Progression Markers Initiative database underwent complete laboratory measurements, demographic and anthropometric parameters at baseline, and were enrolled in this study.

Apolipoprotein E Genotype Contributes to Motor Progression in Parkinson's Disease.

Background: Emerging evidence indicates that the apolipoprotein E (APOE) ε4 exacerbates α-synuclein pathology.

Objective: To determine whether APOE ε4 contributes to motor progression in early Parkinson's disease (PD).

Methods: Longitudinal data were obtained from 384 patients with PD divided into APOE ε4 carriers (n = 85) and noncarriers (n = 299) in the Parkinson's Progression Marker Initiative.

The effect of the PARK16 rs11240572 variant on brain structure in Parkinson's disease.

Increasing evidence suggests that genetic factors play a key role in the development of Parkinson's disease (PD). The variant rs11240572 in the PARK16 gene locus is strongly associated with PD. However, its effect on the pathogenesis of PD is yet to be clarified.

Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease.

Objective: Recently, a meta-analysis of genome-wide association studies (GWASs) has identified 38 novel independent loci associated with risk of Parkinson's disease (PD) in European populations. We sought to investigate whether these genetic susceptibility variants could be replicated in the Chinese Han population.

Methods: We genotyped 38 independent loci in 495 Chinese sporadic PD patients and 470 unrelated controls and performed allelic and genotypic association test using chi-square tests or Armitage test for trend.

Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.

Background: To date, the genetic contribution to Parkinson's disease (PD) remains unclear. Mutations in the collagen type VI alpha 3 (COL6A3) gene were recently identified as a cause of isolated dystonia. Since PD and dystonia are closely related disorders with shared clinical and genetic characteristics, we explored the association between COL6A3 and PD in a Chinese cohort.

Parkinson's Disease in Teneurin Transmembrane Protein 4 () Mutation Carriers.

Introduction: Mutations in the teneurin transmembrane protein 4 () gene, known to be involved in neuropsychiatric disorders, have been identified in three pedigree of essential tremor (ET) from Spain. ET has overlapping clinical manifestations and epidemiological symptoms with Parkinson's disease (PD), suggesting these two disorders may reflect common genetic risk factors. In this study, we investigated clinical and genetic manifestations in four unrelated pedigrees with both ET and PD in which variants were identified.

Different Perivascular Space Burdens in Idiopathic Rapid Eye Movement Sleep Behavior Disorder and Parkinson's Disease.

Background: Excessive aggregation of α-synuclein is the key pathophysiological feature of Parkinson's disease (PD). Rapid eye movement sleep behavior disorder (RBD) is also associated with synucleinopathies and considered as a powerful predictor of PD. Growing evidence suggests the diminished clearance of α-synuclein may be partly attributable to poor interstitial fluid drainage, which can be reflected by magnetic resonance imaging (MRI)-visible enlarged perivascular space (EPVS).

MRI-visible perivascular spaces are associated with cerebrospinal fluid biomarkers in Parkinson's disease.

Perivascular spaces in the brain have been known to communicate with cerebrospinal fluid and contribute to waste clearance in animal models. In this study, we sought to determine the association between MRI-visible enlarged perivascular spaces (EPVS) and disease markers in Parkinson's disease (PD). We obtained longitudinal data from 245 patients with PD and 98 healthy controls from the Parkinson's Progression Marker Initiative.

Rapidly progressive cognitive impairment: an unusual presentation of cerebral venous thrombosis caused by JAK2 V617F-positive primary myelofibrosis: A case report.

Rationale: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition, which mainly manifests as headaches, seizures, and focal neurological deficits. JAK2 mutation in myeloproliferative diseases increases the risk of CVT.

Patient Concerns: This 40-year-old woman suffered from rapidly progressive cognitive impairment and limb weakness.

Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

Background: To date, several studies have suggested that genes involved in monogenic forms of Parkinson's disease (PD) contribute to unrelated sporadic cases, but there is limited evidence in the Chinese population.

Methods: We performed a systematic analysis of 12 autosomal-dominant PD (AD-PD) genes (SNCA, LRRK2, GIGYF2, VPS35, EIF4G1, DNAJC13, CHCHD2, HTRA2, NR4A2, RIC3, TMEM230, and UCHL1) using panel sequencing and database filtration in a case-control study of a cohort of 391 Chinese sporadic PD patients and unrelated controls. We evaluated the association between candidate variants and sporadic PD using gene-based analysis.

Association of ZNF184, IL1R2, LRRK2, ITPKB, and PARK16 with sporadic Parkinson's disease in Eastern China.

Background: Genetic factors may play important roles in the pathogenesis of Parkinson's disease, and more than 40 loci involved in Parkinson's disease have been identified. Due to differing allele frequencies across origins, the associations of these loci and sporadic Parkinson's disease in the Eastern Chinese population are still unclear.

Objective: The aim of this study was to investigate the relationship between 20 single nucleotide polymorphisms and Parkinson's disease in the Eastern Chinese population.

Parkin mutation decreases neurite complexity and maturation in neurons derived from human fibroblasts.

Background: Parkinson's disease (PD) is one of the most common neurodegenerative disorders, and mainly characterized by the progressive degeneration of dopaminergic (DA) neurons in the midbrain substantia nigra and non-DA neurons in many other parts of the brain. Previous studies have shown that several genes associated with the causes of PD can influence neurite outgrowth. Mutations of PRKN (encoding parkin, an E3 ubiquitin ligase) are the most frequent cause of recessively inherited PD.

Assessment of three essential tremor genetic loci in sporadic Parkinson's disease in Eastern China.

Objective: The aim of this study was to investigate potential genetic overlap between essential tremor and Parkinson's disease in a cohort of 825 subjects from an Eastern Chinese population.

Methods: A total of 441 Parkinson's disease patients and 384 healthy controls were recruited. The MassARRAY System was used to detect three essential tremor-related single nucleotide polymorphisms.

Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons.

Aims: Idiopathic congenital nystagmus (ICN) is an oculomotor disorder caused by the defects in the ocular motor control regions of the brain. Mutations in FRMD7, a member of the FERM family of proteins, associated with cytoskeletal dynamics, are the most frequent causes of X-linked ICN. Previous studies illustrated that FRMD7 is involved in the elongation of neurites during neuronal development; however, almost all the studies were performed on mice cell models.