Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, Borgione E, Vitello G A, Musumeci S A
Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, Troina, EN, Italy.
J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):440-3. doi: 10.1136/jnnp.2008.154807.
Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis. However, in this disease also other signs of central nervous system involvement are frequently found.
Clinical, genetical and neuroradiological investigations were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis.
Additional clinical and molecular data are provided, studying other members of the same pedigree, as already described, with a five-base deletion in exon 9 of the SPG4 gene (1215-1219delTATAA) whose members show MRI anomalies that fall within the Dandy-Walker continuum. Furthermore, an unrelated female patient with hypoplasia of the cerebellar vermis is indicated, carrying a de novo previously reported mutation of the SPG4 gene (c.1741C>T p.R581X).
Spastin may play an important role in the development of the central nervous system and in particular in the development of the structures of posterior fossa.
与痉挛蛋白基因（SPG4）突变相关的遗传性痉挛性截瘫（HSP）被认为是痉挛性遗传性截瘫的一种单纯形式。然而，在这种疾病中也经常发现中枢神经系统受累的其他体征。
对一个常染色体显性遗传性痉挛性截瘫的大家族和一例散发性痉挛性截瘫病例进行了临床、遗传学和神经放射学研究。
对同一谱系的其他成员进行研究，提供了更多临床和分子数据，如前所述，该谱系成员的SPG4基因外显子9存在一个五碱基缺失（1215 - 1219delTATAA），其成员的MRI异常属于Dandy-Walker连续病变范围。此外，还指出了一名患有小脑蚓部发育不全的无关女性患者，她携带一个先前报道的SPG4基因的新发突变（c.1741C>T p.R581X）。
痉挛蛋白可能在中枢神经系统发育中，尤其是在后颅窝结构发育中发挥重要作用。
