Spastin mutations in sporadic adult-onset upper motor neuron syndromes
Spastin mutations in sporadic adult-onset upper motor neuron syndromes
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DOI：
10.1002/ana.20652
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发表时间：
2005-12-01
影响因子：
11.2
通讯作者：
van den Berg, LH
中科院分区：
文献类型：
--
作者：
Brugman, F;Wokke, JHJ;van den Berg, LH
Spastin基因突变是纯遗传性痉挛性截瘫最常见的单一原因。在不明原因的散发性上运动神经元(UMN)综合征患者中，临床区分原发性侧索硬化症和散发性遗传性痉挛性截瘫可能是有问题的。为了研究原发性侧索硬化症和散发性遗传性痉挛截瘫患者中是否存在spastin突变，我们对99名患有不明原因的、明显散发性的成人UMN综合征的荷兰患者进行了spastin基因筛查。我们在47名UMN患者中发现了6个突变，其中4个是新发现的，这些患者的症状限于腿部(13%)。另一种新的spastin突变在一名快速进展的脊髓和球部UMN综合征患者中被发现，该综合征进展为肌萎缩侧索硬化症。在有上臂或球部UMN症状且进展缓慢的患者中，未发现spastin突变。我们的研究表明，痉挛蛋白突变是明显的散发性痉挛性瘫痪的常见原因，但不是原发性侧索硬化症的原因。
Mutation of the spastin gene is the single most common cause of pure hereditary spastic paraparesis. In patients with an unexplained sporadic upper motor neuron (UMN) syndrome, clinical distinction between primary lateral sclerosis and sporadic hereditary spastic paraparesis may be problematic. To investigate whether spastin mutations are present in patients with primary lateral sclerosis and sporadic hereditary spastic paraparesis, we screened the spastin gene in 99 Dutch patients with an unexplained, apparently sporadic, adult-onset UMN syndrome. We found 6 mutations, of which 4 were novel, in the subgroup of 47 patients with UMN symptoms restricted to the legs (13%). Another novel spastin mutation was found in a patient with a rapidly progressive spinal and bulbar UMN syndrome that progressed to amyotrophic lateral sclerosis. In the patients with arm or bulbar UMN symptoms and slow progression, no spastin mutations were found. Our study shows that spastin mutations are a frequent cause of apparently sporadic spastic paraparesis but not of primary lateral sclerosis.