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 we contributed to the identification of mutations in the
ALDH18A1 gene being responsible for this SPG form.
We are developing in vitro and in vivo models to dissect the pathogenetic mechanism of the disease and to test new therapeutic approaches.
