SPG11 spastic paraplegia
SPG11 spastic paraplegia
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DOI：
10.1007/s00415-009-0083-3
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发表时间：
2009-01-01
影响因子：
6
通讯作者：
Tranchant, Christine
中科院分区：
文献类型：
--
作者：
Anheim, Mathieu;Lagier-Tourenne, Clotilde;Tranchant, Christine
常染色体隐性遗传性痉挛性截瘫（AR HSP）伴薄胼胝体（TCC）是一种罕见的神经退行性疾病，通常由染色体15q上SPG11位点编码spatacsin的基因突变引起。该病的特点是进行性痉挛性麻痹和智力低下，发生在生命的前20年，经常伴有周围神经病变。脑磁共振成像（MRI）显示典型的TCC伴心室周围白质改变。我们描述了两名患者，土耳其血统，来自同一个近亲家庭，患有SPG11，与不寻常的早发性帕金森病有关。两名患者均在SPG11的早期阶段出现帕金森病，其中一名患者的首发症状表现为静息性震颤伴运动障碍、僵硬，并表现出最初的中度左旋多巴反应，随后逐渐减弱。第二例患者表现为静息性震颤伴轻度运动障碍，无左旋多巴反应。两例患者均患有进行性痉挛性截瘫，最初分别发生于15岁和12岁，并伴有轻度智力迟钝和轴突多发性神经病。TCC伴脑室周围白质改变（PWMC） MRI明显，i -123-碘氟烷SPECT异常。遗传分析在两例患者的SPG11基因中检测到新的c.704_705delAT, p.H235RfsX12纯合突变。本报告提供的证据表明，帕金森病可能启动SPG11相关的HSP TCC， SPG11可能导致青少年帕金森病。
Autosomal recessive hereditary spastic paraplegia (AR HSP) with thin corpus callosum (TCC) is a rare neurodegenerative disorder often caused by mutations in the gene encoding for spatacsin at the SPG11 locus on chromosome 15q. The disease is characterized by progressive spastic paraparesis and mental retardation which occur during the first two decades of life and frequently with peripheral neuropathy. Brain magnetic resonance imaging (MRI) reveals typical TCC with periventricular white matter changes. We describe two patients, of Turkish descent, from the same consanguineous family and affected with SPG11 in association with unusual early-onset parkinsonism. Parkinsonism occurred during the very early stages of SPG11 in both patients, being in one the inaugural symptom of the disease presented as a resting tremor with akinesia, rigidity and expressing an initial moderate levodopa-response that progressively weakened. The second patient presented a resting tremor with mild akinesia and no levodopa-response. Both patients were affected with progressive spastic paraparesis which had initially occurred at 15 and 12 years of age, respectively, in association with mild mental retardation and an axonal polyneuropathy. TCC with periventricular white matter changes (PWMC) was evident by MRI and I-123-ioflupane SPECT was abnormal. Genetic analysis detected for both patients a new c.704_705delAT, p.H235RfsX12 homozygous mutation in SPG11. This report provides evidence that parkinsonism may initiate SPG11-linked HSP TCC and that SPG11 may cause juvenile parkinsonism.