Clinical features and progression of Parkinson's disease with LRRK2 variants: A prospective study.

Objective: We established a prospective cohort study to investigate the differences in motor and non-motor symptoms between idiopathic Parkinson's disease (IPD) and Parkinson's disease in carriers of leucine-rich repeat kinase 2 (LRRK2) gene risk variants (LRRK2-PD).

Methods: The study included 1407 individuals with IPD and 649 individuals with LRRK2-PD (comprising 304 with LRRK2-G2385R, 220 with LRRK2-R1628P, and 105 with LRRK2-A419V). Differences in symptoms between LRRK2-PD and IPD were analyzed using LCMM modeling and Cox regression analysis.

The growth and developmental of the myodural bridge and its associated structures in the human fetus.

Myodural bridge (MDB) is a dense connective tissue between suboccipital muscle and dura mater. However, there are few reports on the development and maturation of the human MDB. This study aims to explore the developmental relationship between suboccipital muscle and MDB.

R-LOOPs on Short Tandem Repeat Expansion Disorders in Neurodegenerative Diseases.

Expansions of short tandem repeats (STRs) have been found to be present in more than 50 diseases and have a close connection with neurodegenerative diseases. Transcriptional silencing and R-LOOP formation, RNA-mediated sequestration of RNA-binding proteins (RBPs), gain-of-function (GOF) proteins containing expanded repeats, and repeat-associated non-AUG (RAN) translation of toxic repeat peptides are some potential molecular mechanisms underlying STR expansion disorders. R-LOOP, a byproduct of transcription, is a three-stranded nucleic acid structure with abnormal accumulation that participates in the pathogenesis of STR expansion disorders by inducing DNA damage and genome instability.

Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson's disease.

Background: Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson's disease (PD) risk factors; however, no comprehensive analyses of these genes in patients with PD have been undertaken. Therefore, we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.

Methods: Whole-exome sequencing (WES) was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls.

Characteristics of fatigue in Parkinson's disease: A longitudinal cohort study.

Objective: To assess the prevalence, evolution, clinical characteristics, correlates and predictors of fatigue as well as to investigate the influence of comorbid fatigue on the longitudinal changes in motor and non-motor symptoms over a 2-year longitudinal follow-up period in a large cohort of patients with Parkinson's disease (PD).

Materials And Methods: A total of 2,100 PD patients were enrolled from the Parkinson's Disease & Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC), and their motor and non-motor symptoms were assessed biennially using comprehensive scales, including the 16-item Parkinson Fatigue Scale (PFS-16). Each PD patient was categorized as PD with or without fatigue on the basis of a cut-off mean PFS-16 score of 3.

A novel mutation causes primary familial brain calcification with migraine: Case report and literature review.

Primary familial brain calcification (PFBC) is a disorder in which pathologic calcification of the basal ganglia, cerebellum, or other brain regions with bilateral symmetry occurs. Common clinical symptoms include dysarthria, cerebellar symptoms, motor deficits, and cognitive impairment. Genetic factors are an important cause of the disease; however autosomal recessive (AR) inheritance is rare.

Development, maturation, and growth of the myodural bridge within the posterior atlanto-axial interspace in the rat.

The myodural bridge (MDB) complex are fibrous bridges that functionally connect the spinal dura mater to the suboccipital musculature. Previously, we described the maturational sequence of the MDB within the posterior atlanto-occipital interspace of the rat. The present paper describes the morphology and developmental maturation of the MDB within the posterior atlanto-axial interspace of the rat.

The Adverse Effect of Anxiety on Dynamic Anticipation Performance.

Anticipation is a crucial perceptual-cognitive skill in fast-ball sports, and the effect of high anxiety on performance has attracted more attention from sports psychologists. Related studies mainly focus on the effect of anxiety on influencing processing efficiency and attentional control (top-down vs. bottom-up) during information processing in sport.

Architecture of the cancellous bone in human proximal tibia based on P45 sectional plastinated specimens.

Purpose: To reveal differences in the pattern of trabecular architecture in the epiphysis and metaphysis of the proximal tibia.

Methods: The trabecular architecture of the proximal tibia was observed in 27 P45 plastinated knee specimens.

Results: In the medial and lateral condyles, under the articular cartilage surrounded by the medial or lateral meniscus, the cancellous bone is formed by thick and dense trabecular bands, which run longitudinally in the epiphysis and then pass through the epiphyseal line to terminate on the slanted cortex of the metaphysis.

Development of myodural bridge located within the atlanto-occipital interspace of rats.

The myodural bridge (MDB) is a dense connective tissue structure that connects the subocciptal musculature to the spinal dura mater. The purpose of this study was to clarify morphological evolution characteristics and compositional changes in the fibrous structures of MDB during its growth and development in the atlanto-occipital interspace. For this, histological sections from Sprague-Dawley (SD) rats (age, E17 to adulthood) were stained with Masson's Trichrome and Picrosirius Red.