CLONING, EXPRESSION AND CHARACTERIZATION OF THE SPG4 GENE RESPONSIBLE FOR THE MOST FREQUENT FORM OF DOMESTIC AUTOSOMIC SPASTIC PARAPLEGIA

摘要

The invention concerns the identification and characterisation of the SPG4 gene coding for spastin, and some mutations thereof responsible for the most frequent form of autosomal dominant familial spastic paraplegia, the cloning and the characterisation of its cDNA and the corresponding polypeptides. The invention also concerns vectors, transformed cells and transgenic animals as well as diagnostic methods and kits, and methods for selecting a chemical or biological compound capable of directly or indirectly interacting with said polypeptide.