Publications by authors named "L C Lit"
LRRK2-related Parkinson's disease (LRRK2-PD) is the most frequent form of monogenic PD worldwide, with important therapeutic opportunities, exemplified by the advancement in LRRK2 kinase inhibition studies/trials. However, many LRRK2 variants, especially those found in underrepresented populations, remain classified as variants of uncertain significance (VUS). Leveraging on Malaysian, Singaporean, and mainland Chinese PD datasets (n = 4901), we describe 12 Chinese-ancestry patients harboring the LRRK2 p.
View Article and Find Full Text PDFBackground: The availability of deep brain stimulation (DBS), a highly efficacious treatment for several movement disorders, remains low in developing countries, with scarce data available on utilization and outcomes.
Objective: We characterized the DBS cohort and outcomes at a Malaysian quaternary medical center.
Methods: A retrospective chart review was done on DBS-related surgery at the University of Malaya, including clinico-demographic, genetics, and outcomes data focusing on post-operative medication reduction and complications.
Article Synopsis
- - The study investigated how matrix metalloproteinase-2 (MMP-2) contributes to ligamentum flavum (LF) hypertrophy in a rat model and assessed the effects of elastin-derived peptides (EDPs) on MMP-2 and tissue inhibitors (TIMPs) in LF cells.
- - After inducing mechanical stress through surgery, researchers observed significant changes in LF structure, including increased thickness and cellular changes, alongside elevated MMP-2 and TIMP levels after 6 and 12 weeks.
- - EDPs were found to suppress MMP-2 expression and alter TIMP levels in isolated rat LF cells, highlighting a complex interaction where EDPs enhance the MMP-2/TIMPs
Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson's disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement of variants in the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase and is the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann-Pick disease types A and B.
View Article and Find Full Text PDFGenetic study of early-onset Parkinson's disease in the Malaysian population.
Parkinsonism Relat Disord
June 2023
Article Synopsis
- The study focuses on early onset Parkinson's disease (EOPD), which affects 5-10% of patients and is linked to genes like GBA1, PRKN, and PINK1, particularly in diverse populations such as Southeast Asians.
- Researchers examined 161 Malaysian patients with PD diagnosed before age 50, using genetic testing methods to identify pathogenic variants.
- Findings revealed that 21.7% of patients had significant genetic variants, with GBA1 being the most common, and highlighted the need for broader genetic research to include under-represented groups.