Hereditary Spastic Paraplegias.
Hereditary Spastic Paraplegias (HSP) are a clinical and genetically heterogeneous group of neurodegenerative disease. More than eighty different SPG (SPastic parapleGia/ SPastic Gait)forms have been described, and several disease-genes have been identified.
Our group mapped the SPG9 form and recently we identified mutations in the ALDH18A1 gene being responsible for this SPG form (Panza E et al, “ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.” BRAIN 2016).
We are developing in vitro and in vivo models to dissect the pathogenetic mechanism of the disease and to test new therapeutic approaches.
