What causes Troyer syndrome ?
What causes Troyer syndrome? Troyer syndrome is caused by mutations in the SPG20 gene. This gene gives the body instructions to make a protein called spartin, which is present in many body tissues, including those of the nervous system. However, the function of this protein is not fully understood. It is thought to play various roles needed for the functions of cells. Troyer syndrome is assumed to be caused by a loss of function of the spartin protein. More research on the normal functions of the spartin protein is needed to better understand exactly how mutations in the SPG20 gene cause the features of Troyer syndrome.