Publications by authors named "L J Ozelius"
Introduction: The onset of symptoms in Rapid-onset dystonia-parkinsonism (RDP) is typically over days to weeks and is often triggered by stressors like fever or childbirth. Limited information is available on how the motor and nonmotor symptoms evolve over the course of the disease. Our longitudinal study analyzed data from a cohort of RDP patients, documenting their symptoms across multiple visits.
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- A large-scale genome-wide association study (GWAS) was conducted with over 6000 participants to investigate genetic risk factors for isolated dystonia, aiming to improve upon earlier studies that found no significant genetic links.
- The study included 4303 dystonia patients and 2362 healthy controls, analyzing various factors like age of onset and affected body areas, but ultimately failed to identify any common genetic variants associated with dystonia.
- The findings suggest that isolated dystonia may not be influenced by common genetic variations, highlighting the need for more extensive studies like whole-genome sequencing to uncover potential genetic contributions.
There is a paucity of genetic characterization in people with Parkinson's disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-Jewish European PD cases revealed that Puerto Rican participants were more likely to harbor the LRRK2-p.G2019S variant (15.
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- A genome-wide association study (GWAS) on multiple system atrophy (MSA) was conducted using data from various populations including Japanese, Korean, Chinese, European, and North American samples.
- The study identified a significant genetic variant, rs2303744 on chromosome 19, which showed strong association with MSA in East Asian populations and was also significant in European/North American samples despite differences in allele frequencies.
- The associated variant leads to an amino acid change in the cPLA2γ enzyme, resulting in reduced enzymatic activity that could disrupt biological processes involving membrane phospholipids and α-synuclein, potentially contributing to the disease's development.