Patterns and biomarkers of X-linked dystonia parkinsonism disease progression
OA Version
Citation
Abstract
X-linked dystonia parkinsonism is a neurodegenerative movement disorder that originate from the island of Panay, Philippines. Though this is a relatively novel disease, efforts have been directed towards solving the etiology, which currently points to an expansion in the TAF1 gene. This gene plays a regulatory role in transcription that may be compliant with treatment options. To set up the basis for clinical trials in the future, a previous natural history paper focused on recognizing quantitative measures that strongly indicate disease progression, which can be entered into a statistical model that predicts symptom trajectory. The objective of this present study is to replicate the methodologies and results performed in the first cohort to see the measures which proved to be statistically significant, are consistently significant in a new cohort of men. By taking a new cohort of men affected with X-linked dystonia parkinsonism we will be able to monitor their symptomatic trajectories to see if it aligns with the results of the previous publication. We also include the brothers of affected men, who have a 50% risk of developing disease, to serve as either controls or to provide insight into what may be the earliest signs of disease. Participants who enrolled performed a standardized oromotor, speech and neurological assessment every 6 months over an 18 month period. 73 men were evaluated: 30 who were gene-positive and exhibited symptoms and 5 who were gene-positive without symptoms at the time of enrollment, while the remaining 38 were gene negative. The men who was confirmed to have the SVA but pre-symptomatic were of keen interest, as there was a chance they could phenoconvert to manifest the disease.
Description
2024
License
Attribution 4.0 International