Researchers at the Collaborative Center for X-linked Dystonia-Parkinsonism (XDP) are working to develop new ways to treat this degenerative disorder.
What is X-linked Dystonia-Parkinsonism (XDP)?
X-Linked Dystonia Parkinsonism, also called Lubag or DYT3 dystonia, primarily affects men with Filipino ancestry from the Island of Panay. XDP is an inherited neurodegenerative movement disorder that changes over the course of many years, resulting in significant disability. Beginning in adulthood, people with XDP experience movement problems, called dystonia or parkinsonism. Dystonia is a pattern of involuntary, continuous muscle cramping and spasm. Depending on which muscles are affected, dystonia can cause difficulty with speaking, swallowing, coordination, and walking. Parkinsonism is a group of movement difficulties including tremors, slow movements, stiffness, unsteadiness and a shuffling gait. The signs and symptoms of dystonia and/or parkinsonism vary widely between related and unrelated people.
Recent CCXDP-funded research studies have shown that XDP is most likely caused by a disease-specific SINE-VNTR-Alu (SVA)-type retrotransposon insertion in an intron of the human TAF1 gene. The SVA contains a hexameric sequence (CCCTCT)n, the length of which is polymorphic among patients and inversely correlated to age of disease onset (Bragg et al). The insertion results in aberrant TAF1 mRNA splicing and partial intron retention which decreases levels of the full-length transcript (Aneichyk et al).