“Bachmann-Strauss is continuing the momentum into discovery, enabling major advances and insights that are now helping to identify new therapies.”
- Ted Dawson, MD, PhD
Research funded by The Bachmann-Strauss Dystonia & Parkinson Foundation has led to the following key scientific accomplishments:
Creating Animal Models to Gain Insight
Our early funding of the first genetically-altered (“transgenic”) mouse model resulted in the groundbreaking discovery of DYT1 dystonia that showed behavioral features similar to patients with early onset dystonia. Since then, Bachmann-Strauss funded studies on transgenic mice and on the roundworm C elegans have shed light on the pathophysiology of DYT1 dystonia, abnormalities in the brain that may result in dystonia, and the impact of proteins.
In addition, two mouse models, one of L-DOPA responsive dystonia and the other of rapid onset dystonia-Parkinsonism, provide new information to characterize the link between dystonia and Parkinsonism. This research will also be useful for further study to develop new therapies.
Five new genes that protect dopamine neurons from dying – a hallmark trait of Parkinson’s disease – were recently identified in transgenic roundworm models. This is a possible step toward identifying new targets for drug development and genetic factors that make some people more susceptible to the disease.
Discovering New Interactions in the Brain
Evidence has been found that dysfunction in the cerebellum may play a role in dystonia, and that two areas of the brain – the basal ganglia and the cerebellum – interact in the expression of dystonic movement. Previous theory held that dystonia was caused by a malfunction in the basal ganglia alone.
TorsinA is a protein that, when mutant, can cause dystonia. Major findings in this area include:
- Development of the antibody to torsinA, and work that helped to define the normal function of torsinA
- Demonstration that torsinA protects against cell death and that mutant torsinA does not, and demonstration that torsinA is present in Lewy bodies in Parkinson's disease. Lewy bodies are massive clumps of protein within cells
- Determination that torsinA is a chaperone-like enzyme that normally operates on proteins within the nuclear envelope where it is located. The nuclear envelope is a two-layered membrane surrounding the nucleus of a living cell
- Determining where torsinA is located in the brain in normal rodents, in normal human controls, and in DYT1 dystonia patients
Advancing New Treatments
Discovery of compounds and genes shown to suppress the harmful stress associated with the misfolding of proteins within cells have led to a licensing agreement with a biotech company to explore drug development for treating dystonia, Parkinson’s disease and other neurological disorders.
Identifying Genes to Find Causes and Treatments
Identification of genes associated with dystonia-Parkinsonism syndrome, and follow up research to understand the molecular pathways that underlie this disease.
Testing New Therapies: Deep Brain Stimulation
- Development of the concept that low frequency Deep Brain Stimulation (DBS) surgery can help alleviate symptoms in DYT1 patients
- Study of the role of DBS in patients with secondary dystonia
- Clinical studies demonstrating the clinical benefits of DBS of the GPi - an area in the brain's basal ganglia - in patients with DYT1 dystonia
Studying Genetics in Population Groups
Determination of the prevalence of DYT1 dystonia in Iceland (highest recorded) and determination of an area of a gene that is the most susceptible to develop DYT1 in Icelandic patients.