{Reference Type}: Case Reports
{Title}: Expanded phenotype in a patient with spastic paraplegia 7.
{Author}: Gass J;Blackburn PR;Jackson J;Macklin S;van Gerpen J;Atwal PS;
{Journal}: Clin Case Rep
{Volume}: 5
{Issue}: 10
{Year}: 10 2017
暂无{DOI}: 10.1002/ccr3.1109
{Abstract}: Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.