Muglia M, Citrigno L, D'Errico E, Magariello A, Distaso E, Gasparro A A, Scarafino A, Patitucci A, Conforti F L, Mazzei R, Cortese R, Tortelli R, Simone I L
Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
J Neurol Sci. 2014 Aug 15;343(1-2):218-20. doi: 10.1016/j.jns.2014.05.063. Epub 2014 Jun 5.
Hereditary spastic paraplegia (HSP) includes a group of diseases characterized by progressive spastic weakness of the lower limbs (pure forms) with possible additional signs (complicated forms). The SPG10 form is due to alteration in the kinesin1A gene (KIF5A) that encodes the neuronal kinesin heavy chain, a protein required for the anterograde axonal transport. We performed clinical, neurophysiological and molecular studies in two siblings affected by AD-HSP complicated by deafness. The screening of the KIF5A gene revealed the novel mutation p.Leu259Gln in two affected siblings and in their father with a pure form of HSP.
遗传性痉挛性截瘫（HSP）包括一组以双下肢进行性痉挛性无力为特征的疾病（纯合型），可能伴有其他症状（复杂型）。SPG10型是由驱动蛋白1A基因（KIF5A）变异所致，该基因编码神经元驱动蛋白重链，这是轴突正向运输所需的一种蛋白质。我们对两名患有伴有耳聋的常染色体显性遗传性痉挛性截瘫（AD-HSP）的同胞进行了临床、神经生理学和分子学研究。对KIF5A基因的筛查发现，两名患病同胞及其患有纯合型HSP的父亲中存在新的p.Leu259Gln突变。
