AUTOSOMAL RECESSIVE HEREDITARY SPASTIC PARAPLEGIA WITH THIN CORPUS CALLOSUM: IDENTIFICATION OF THE SPG11 GENE

This project will be focused on the study of a recessive form of familial spastic paraplegia, a group of neurodegenerative disorders characterized by great phenotypic and genetic heterogeneity. In particular, our project will be focused on the SPG11 type, also known as autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and it will pursue the identification of the causative gene(s). As these disabling disorders are often lethal, the final objective is effective therapy. We initially plan to increase our genetic knowledge of the genotype-phenotype relationships; this might be important to offer more accurate genetic counseling. Optimistically, it might give us clues as for improving understanding of the related physiopathology. These advances will directly benefit the families through better diagnosis and improved medical genetic options.