Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.
Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.
Published In/Presented At
Salameh, J. S., Shenoy, A. M., & David, W. S. (2009). Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. Journal of clinical neuromuscular disease, 11(1), 57–59. https://doi.org/10.1097/CND.0b013e3181ae3c06
Medicine and Health Sciences
Department of Medicine