Spastic paraplegia type 15 is characterized by the progressive loss of neurons in the central nervous system that are responsible for controlling movement. Initial symptoms typically appear in late childhood, manifesting first in the legs in the form of uncontrollable twitching and paralysis. “What exactly causes these neurons to die is still not fully understood,” explains Professor Elvira Mass from the LIMES Institute at the University of Bonn. “In this study, we investigated the potential role of the immune system in this process.”
Professor Mass and Dr. Marc Beyer from the DZNE, together with Professor Ralf Stumm from University Hospital Jena, served as the study’s lead investigators, bringing together extensive experience to study this rare hereditary disease. The condition is triggered by a defect in the so-called SPG15 gene, which contains instructions for building a protein. But due to that defect, the protein cannot be produced.
Severe inflammation preceding the onset of cell damage
In their experiments the researchers used mice that shared the same genetic defect. “There was existing evidence that inflammatory processes in the brain play a role in development of the disease,” Dr. Beyer explains, “So we studied microglia, which are ...