Du Juan, Shen Lu, Tang Beisha
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):670-3. doi: 10.3760/cma.j.issn.1003-9406.2009.06.013.
The hereditary spastic paraplegias (HSPs) are a large group of inherited, heterogeneous neurological disorders. All modes of inheritance have been reported. SPG11-associated HSP is supposed to be the most common type of complicated autosomal recessive HSP (ARHSP), especially for patients with thin corpus callosum and intelligence disorder. Here we review the mapping and cloning of the SPG11 gene, the clinical features and the supposed pathogenic mechanisms of SPG11 gene abnormalities.
遗传性痉挛性截瘫（HSPs）是一大类遗传性、异质性神经疾病。所有遗传方式均有报道。SPG11相关的HSP被认为是最常见的复杂常染色体隐性遗传性痉挛性截瘫（ARHSP）类型，尤其是对于胼胝体薄和智力障碍的患者。在此，我们综述SPG11基因的定位与克隆、临床特征以及SPG11基因异常的推测致病机制。
