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Pathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
New insights on the regulators and inhibitors of RhoA-ROCK signalling in Parkinson's disease.
Metab Brain Dis
January 2025
Disease Proteomics Laboratory, Department of Zoology, Bharathiar University, Coimbatore, 641046, Tamil Nadu, India.
A multifaceted and widely prevalent neurodegenerative disease, Parkinson's disease (PD) is typified by the loss of dopaminergic neurons in the midbrain. The discovery of novel treatment(s) that can reverse or halt the course of the disease progression along with identifying the most reliable biomarker(s) in PD remains the crucial concern. RhoA in its active state has been demonstrated to interact with three distinct domains located in the central coiled-coil region of ROCK.
View Article and Find Full Text PDFThe Parkinson's disease (PD)-linked protein Leucine-Rich Repeat Kinase 2 (LRRK2) consists of seven domains, including a kinase and a Roc G domain. Despite the availability of several high-resolution structures, the dynamic regulation of its unique intramolecular domain stack is nevertheless still not well understood. By in-depth biochemical analysis, assessing the Michaelis-Menten kinetics of the Roc G domain, we have confirmed that LRRK2 has, similar to other Roco protein family members, a K value of LRRK2 that lies within the range of the physiological GTP concentrations within the cell.
View Article and Find Full Text PDFEarly Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.
Tremor Other Hyperkinet Mov (N Y)
December 2024
Neurology Department, University Hospital of Liege, Liege, Belgium.
Background: While levodopa may benefit some patients with monogenic Parkinson's Disease and parkinsonism, others may exhibit aberrant responses earlier after exposure. Reporting treatment responses in rare genetic parkinsonism will help tailor therapeutic approaches to specific patients subpopulations.
Case Report: We report the therapeutic response in a patient with X-linked parkinsonism, who exhibited motor and non-motor complications within a few months of Levodopa.
Therapeutic potential of green tea catechins on the development of Parkinson's disease symptoms in a transgenic A53T mouse model.
Nutr Neurosci
November 2024
Department of Environmental Health Science, College of Public Health, University of Georgia, Athens, USA.
This study aimed to evaluate the effects of green tea catechins on the prevention of Parkinson's disease neurobehavioral symptoms and α-synuclein blood plasma concentration in a hemizygous transgenic A53T mouse model. Thirty 6-month-old male mice were randomly assigned to three groups ( = 10/group): control, low-dose, and high-dose, receiving green tea polyphenol (GTP) treatment in their drinking water at 0%, 0.5%, and 1.
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