Salameh Johnny S, Shenoy Anant M, David William S
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
J Clin Neuromuscul Dis. 2009 Sep;11(1):57-9. doi: 10.1097/CND.0b013e3181ae3c06.
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.
遗传性痉挛性截瘫是一组以进行性下肢无力和痉挛为特征的疾病。我们描述了两名具有Silver表型的患者，其中一名携带新的SPG4（痉挛素）突变，另一名携带已知的SPG4突变（以前与该表型无关）以及SPG3A（Atlastin）中一个先前未报道的伴随突变。这些病例表明，Silver综合征可能与比先前描述的更多样化的基因型相关。
