Imbalance and falls in individuals with Hereditary Spastic Paraplegia
Objective: The aim of this systematic review is to assess imbalance and falls in patients with HSP through a systematic and comprehensive evaluation of the…Association between Freezing of Gait and Probable Sarcopenia in Patients with Parkinson’s Disease
Objective: This study aimed to determine whether FOG is related to the risk of probable sarcopenia in PD patients. Sarcopenia is probable when low muscle…Alpha-Synuclein Promotes the Expression and Release of Neurofilament Light Chain from Oligodendrocytes in Multiple System Atrophy
Objective: This study aims to determine the Neurofilament light chain (NfL) expression in oligodendrocytes, investigate whether excess α-synuclein (α-syn) impacts NfL expression, release, and functions…Pathogenic TBK1 Mutation Associated with Multiple System Atrophy-Like Phenotype
Objective: To report a novel case of an MSA-like phenotype in a patient with a pathogenic mutation in the TBK1 gene. Background: TANK-binding kinase 1…Alpha Synuclein Seeding Activity Drives Disease Heterogeneity in an Animal Model of Multiple System Atrophy
Objective: To examine the impact of multiple system atrophy (MSA) brain-derived alpha synuclein (αSyn) with diverse seeding activities in an inoculation-based animal model. Background: We…Identification of Genetic Variants in Progressive Supranuclear Palsy in China
Objective: To delineate the genetic landscape of progressive supranuclear palsy (PSP) in Chinese patients.Progressive supranuclear palsy is a neurodegenerative disorder primarily considered sporadic, with MAPT…Wilson’s Disease with Hereditary Hemorrhagic Telangiectasia and Pituitary Microadenoma: A Case Report
Objective: To report a case of a young female patient with Wilson's disease, hereditary hemorrhagic telangiectasia (HHT), and pituitary microadenoma, and to enhance the understanding…Oligodendrocyte-specific mRNA therapy with lipid nanoparticles
Objective: To develop lipid nanoparticles with high efficiency and specificity to introduce mRNA into oligodendrocytes. To denmonstrate the potential therapy of Krabbe disease as one…Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants
Objective: To generate disease-representative zebrafish models using CRISPR-Cas9 technique.To characterise the zebrafish models by performing phenotypic characterization, neurobiological experiments, lipidomic and RNASeq studies.To test targeted…Phenotypic Spectrum of Movement Disorders in TBC1D24 Gene Variants: A Case Series
Objective: To report the phenotypic spectrum of movement disorders in 5 pediatric patients with TBC1D24 gene variants and provide accompanying video. Background: The TBC1D24 gene…
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