Magariello Angela, Muglia Maria, Patitucci Alessandra, Mazzei Rosalucia, Conforti Francesca Luisa, Gabriele Anna Lia, Sprovieri Teresa, Ungaro Carmine, Gambardella Antonio, Mancuso Michelangelo, Siciliano Gabriele, Branca Damiano, Aguglia Umberto, de Angelis Maria Vittoria, Longo Katia, Quattrone Aldo
Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8.
Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member of the AAA protein family. A cohort of 34 unrelated Italian patients with pure spastic paraplegia, of which 18 displayed autosomal dominant inheritance and 16 were apparently sporadic, were screened for mutations in the SPG4 gene by denaturing high performance liquid chromatography. We identified a previously reported mutation in a sporadic patient with pure hereditary spastic paraplegia. We also identified eight unrelated patients with pure autosomal dominant hereditary spastic paraplegia carrying five novel mutations in the SPG4 gene (one missense mutation, c.1304 C>T; one nonsense mutation, c.807C>A; two frameshift mutations, c.1281dupT, c.1514_1515insATA; and one splicing mutation, c.1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population.
4型痉挛性截瘫是由编码痉挛蛋白（SPG4）的基因突变引起的，痉挛蛋白是AAA蛋白家族的成员。对34名患有单纯性痉挛性截瘫的意大利无关患者进行了队列研究，其中18名表现为常染色体显性遗传，16名显然是散发性的，通过变性高效液相色谱法对SPG4基因的突变进行了筛查。我们在一名患有单纯遗传性痉挛性截瘫的散发性患者中发现了一个先前报道的突变。我们还发现了8名患有纯常染色体显性遗传性痉挛性截瘫的无关患者，他们在SPG4基因中携带5种新的突变（一种错义突变，c.1304 C>T；一种无义突变，c.807C>A；两种移码突变，c.1281dupT，c.1514_1515insATA；以及一种剪接突变，c.1322-2A>C）。在常染色体显性遗传性痉挛性截瘫中检测到的SPG4突变频率为44.4%。这项研究有助于扩大意大利人群中SPG4突变的范围。
