Cen Zhidong, Lu Xingjiao, Wang Zhenzhen, Ouyang Zhiyuan, Xie Fei, Luo Wei
Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, PR China.
Department of Children's Medicine, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, PR China.
J Clin Neurosci. 2015 Feb;22(2):429-30. doi: 10.1016/j.jocn.2014.08.010. Epub 2014 Dec 5.
Silver syndrome/spastic paraplegia 17 is an autosomal dominant, complicated hereditary spastic paraparesis in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Heterozygous mutations of its causative gene, the Berardinelli-Seip congenital lipodystrophy gene, have a broader spectrum of phenotypes including Silver syndrome, distal hereditary motor neuropathy type V and Charcot-Marie-Tooth disease type 2. We report a Chinese family carrying the S90L mutation with Silver syndrome and discuss our literature review of the clinical phenotypes of S90L. Most reported patients (21 of 26) with this mutation showed a phenotype of Silver syndrome. The S90L mutation is predominantly associated with Silver syndrome.
西尔弗综合征/痉挛性截瘫17型是一种常染色体显性复杂遗传性痉挛性截瘫，其腿部痉挛伴有手部肌萎缩，偶尔也伴有下肢肌萎缩。其致病基因——贝拉尔迪内利-塞普先天性脂肪营养不良基因的杂合突变具有更广泛的表型谱，包括西尔弗综合征、Ⅴ型远端遗传性运动神经病和2型夏科-马里-图斯病。我们报告了一个携带S90L突变的中国西尔弗综合征家系，并讨论我们对S90L临床表型的文献综述。大多数报道的携带此突变的患者（26例中的21例）表现出西尔弗综合征的表型。S90L突变主要与西尔弗综合征相关。
