Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
复制标题
DOI：
10.1212/01.wnl.0000138731.60693.d2
复制
发表时间：
2004-09-28
期刊：
影响因子：
9.9
通讯作者：
Neri, M
中科院分区：
文献类型：
--
作者：
Fichera, M;Lo Giudice, M;Neri, M
遗传性痉挛性截瘫（HSPs）的特征是由于运动和感觉神经元轴突变性导致的进行性下肢痉挛。我们报道了一个分离出常染色体显性HSP表型的四代家系，并显示出与编码Kinesin家族成员5A的SPG10位点的连锁。在变性高效液相色谱（dHPLC）突变筛选之后，我们在参与微管结合活性的区域的不变精氨酸残基上发现了一个新的错义突变838C b> T （R280C）。
Hereditary spastic paraplegias (HSPs) are characterized by progressive lower extremity spasticity due to an axonal degeneration of motor and sensory neurons. We report a four-generation pedigree segregating an autosomal dominant phenotype for HSP and showing a linkage to the SPG10 locus, coding for Kinesin family member 5A. Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C> T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity.