Publications by authors named "A S Mawardi"
Introduction: Parkinsonian syndrome encompasses a group of movement disorders characterized by symptoms such as tremor, rigidity, bradykinesia, and postural instability. While Idiopathic Parkinson's disease is the most common cause, several other etiologies can also result in parkinsonism. Identifying the specific type of Parkinsonian syndrome is essential due to its varying therapeutic and prognostic implications.
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.
GBA variants are associated with increased risk and earlier onset of Parkinson's disease (PD), and more rapid disease progression especially with "severe" variants typified by p.L483P. GBA mutation screening studies from South-East Asia, with > 650 million inhabitants of diverse ancestries, are very limited.
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