Disruptions in this railroad system have been seen in many neurodegenerative diseases, but these problems have been generally regarded as byproducts of the disorder rather than the cause, the researchers say. These new findings may change that view, they say.
For example, in amyotrophic lateral sclerosis (ALS), a motor neuron disease also known as Lou Gehrig's disease, the molecular motors (for example, dynein, dynactin and kinesin) that drive transport from distant nerve terminals to the cell body may become defective. In some forms of Parkinson's disease, growing evidence indicates that the cargoes being trafficked are also misdirected by faulty signaling, due to pathogenic mutations in the leucine-rich repeat kinase 2(LRRK2) gene, Dr. Farrer says.
The findings may also shed light on other neurodegenerative disorders, the researchers say. In Alzheimer's disease, frontotemporal dementia and progressive supranuclear palsy, for instance, the "spikes," comprised of microtubule associated protein tau (MAPT), that normally stabilize and secure these rails tend to fall apart.
This discovery would not have been possible without a consortium of international researchers including co-authors from Canada, France, Japan, Turkey, and the United Kingdom, says Dr. Wszolek, who established the collaborative network of scientists.
Perry syndrome was first described in two unrelated Canadian families in 1975. In a study published in 2007, Dr. Wszolek, along with Swiss neurologist and visiting fellow Christian Wider, M.D., summarized the clinical features of the disease
|Contact: Kevin Punskky|