Скачать или смотреть DNA dialogue May 2025 - Eva Maria de Cutiongco-de la Paz

This month's seminar “Investigating the Genetic Epidemiology of X-linked Dystonia Parkinsonism”, features Dr Eva Maria Cutiongco-de la Paz from the University of the Philippines.

X-linked Dystonia Parkinsonism (XDP) is a rare, severe neurodegenerative disease that manifests exclusively among people with maternal ancestry tracing back to the Panay region of the Philippines, due to a genetic founder effect. It is caused by an SVA retrotransposon that contains a hexameric repeat expansion in the TAF1 gene. XDP is inherited in an X-linked recessive manner and mostly affects men. There is no available data regarding the national prevalence of the causative gene for XDP. Eva discusses how their study showed it is more common than currently reported and the significance of these findings.