Brugman F, Scheffer H, Wokke J H J, Nillesen W M, de Visser M, Aronica E, Veldink J H, van den Berg L H
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
Neurology. 2008 Nov 4;71(19):1500-5. doi: 10.1212/01.wnl.0000319700.11606.21. Epub 2008 Sep 17.
To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset upper motor neuron (UMN) syndromes.
We analyzed the paraplegin gene in 98 Dutch patients with a sporadic adult-onset UMN syndrome. Inclusion criteria were a progressive UMN syndrome, adult onset, duration >6 months, and negative family history. Exclusion criteria were clinical or electrophysiologic evidence of lower motor neuron loss and evidence of other causes using a predefined set of laboratory tests, including analysis of the spastin gene.
Seven patients had homozygous or compound heterozygous pathogenic paraplegin mutations: six patients had UMN symptoms restricted to the legs and one had UMN symptoms in legs and arms. No mutations were found in the 33 patients with UMN involvement of the bulbar region. Age at onset was lower in the seven patients with paraplegin mutations (37 years, range 34-42) than in the 91 patients without mutations (51 years, range 18-77, p = 0.001). Three of the seven patients with paraplegin mutations and none of the patients without mutations developed cerebellar signs during follow-up.
Paraplegin mutations are a frequent cause of sporadic spastic paraparesis.
研究散发型成人起病的上运动神经元（UMN）综合征患者中常染色体隐性遗传性 paraplegin 基因突变的频率。
我们分析了 98 例荷兰散发型成人起病的 UMN 综合征患者的 paraplegin 基因。纳入标准为进行性 UMN 综合征、成人起病、病程>6 个月且家族史阴性。排除标准为下运动神经元丢失的临床或电生理证据以及使用一组预定义实验室检查（包括痉挛蛋白基因分析）发现的其他病因证据。
7 例患者存在纯合或复合杂合致病性 paraplegin 突变：6 例患者的 UMN 症状局限于腿部，1 例患者的 UMN 症状累及腿部和手臂。33 例延髓区域有 UMN 受累的患者未发现突变。paraplegin 突变的 7 例患者起病年龄（37 岁，范围 34 - 42 岁）低于无突变的 91 例患者（51 岁，范围 18 - 77 岁，p = 0.001）。7 例 paraplegin 突变患者中有 3 例在随访期间出现小脑体征，无突变患者均未出现。
paraplegin 突变是散发性痉挛性截瘫的常见病因。
