For the past 20+ years, my research has focused on the role of mitochondrial deficits in neurodegenerative disorders like Fragile X-Tremor/Ataxia Syndrome (FXTAS) and Huntington's disease (HD), but also on the involvement of bioenergetics and metabolic deficits in neurodevelopment disorders like ASD.
More recently I joined a project focusing on Rapid-Onset Dystonia Parkinsonism (RDP), a rare movement disorder caused by mutations in the ATP1A3 gene. RDP causes movement abnormalities that can make it difficult to walk, talk, and carry out other activities of daily life. In this disorder, dystonia affects arms and legs, causing muscle cramping and spasms. Facial muscles are often affected, resulting in problems with speech and swallowing. The movement abnormalities associated with rapid-onset dystonia parkinsonism tend to begin near the top of the body and move downward, first affecting the facial muscles, then the arms, and finally the legs.