The causes of progressive supranuclear paralysis (PSP) are still unknown. This pathology is said to be multifactorial with probably a genetic predisposition coupled with an environmental factor. It is not a hereditary disease and the genetic component is very possibly based on several genetic variants not identified to date. A toxic environmental origin is a hypothesis that has been investigated, such as exposure to arsenic or chromium in the textile industries, but has never been formally proven.
Biological mechanisms of PSP
From a biological point of view, there are malfunctions in the transmission of information between neurons due to a deficit of neurotransmitters, a molecule that allows the transmission of nerve impulses between two neurons and that are released into the synapse.
The largest deficiency observed in 90% of patients was for dopamine and its receptors in the black matter. In about 40% of patients a decrease in the effect of acetylcholine, another neurotransmitter is observed in particular in the basal ganglia, pallidum and brainstem.
At Paris Brain Institute
Dr. Isabelle LEBER, Neurologist, Coordinator of the Reference Centre for Progressive Supranuclear Paralysis of the Pitié-Salpêtrière Hospital and researcher in the team of Alexandra DURR and Giovanni STEVANIN is seeking to identify causes and better understand the mechanisms of the disease.