Expanded phenotype in a patient with spastic paraplegia 7.
Jennifer M GassPatrick R BlackburnJessica JacksonSarah MacklinJay van GerpenPaldeep S AtwalPublished in: Clinical case reports (2017)
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.