Cafforio Gianfranco, Calabrese Rosanna, Morelli Nicola, Mancuso Michelangelo, Piazza Selina, Martinuzzi Andrea, Bassi Maria Teresa, Crippa Francesco, Siciliano Gabriele
Department of Neuroscience O U of Neurology, S Chiara Hospital, University of Pisa, Pisa, Italy.
Neurol Sci. 2008 Jun;29(3):189-91. doi: 10.1007/s10072-008-0937-y. Epub 2008 Jul 9.
Silver syndrome (SPG17) is a rare form of hereditary spastic paraparesis. Its relationship to distal hereditary motor neuropathy (dHMN) type V is underlined by the recent discovery of causative mutation in BSCL2 gene coding for a protein termed seipin, an integral membrane protein of endoplasmic reticulum, with unknown function. Here we report the third Italian family with dHMN and SPG17 in which two affected members harbor the heterozygous N88S mutation in the BSCL2 gene. The proband developed a severe paraparetic spastic gait, while, in the other Italian families reported so far, no signs of upper motor neuron involvement were observed. This family confirms the clinical heterogeneity associated with this specific mutation. Moreover, this is the first report in which neuroimaging seems to confirm the pyramidal alterations in dHMN associated to SPG17.
西尔弗综合征（SPG17）是遗传性痉挛性截瘫的一种罕见形式。编码一种名为丝蛋白的蛋白质（一种内质网整合膜蛋白，功能未知）的BSCL2基因中致病突变的最近发现，突显了它与V型远端遗传性运动神经病（dHMN）的关系。在此，我们报告了第三例患有dHMN和SPG17的意大利家族，其中两名患病成员在BSCL2基因中携带杂合的N88S突变。先证者出现了严重的截瘫性痉挛步态，而在迄今报道的其他意大利家族中，未观察到上运动神经元受累的迹象。这个家族证实了与这种特定突变相关的临床异质性。此外，这是第一份神经影像学似乎证实与SPG17相关的dHMN中锥体改变的报告。
