Silver syndrome may be associated with a wider variety of genotypes than previously described.
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.
Source
J Clin Neuromuscul Dis. 2009 Sep;11(1):57-9.
Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.
Salameh JS, Shenoy AM, David WS.
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. [email protected]