SPG11：一个患有纯合性spatacsin截短突变的家族中的一致临床表型。
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
作者信息
Del Bo Roberto, Di Fonzo Alessio, Ghezzi Serena, Locatelli Federica, Stevanin Giovanni, Costa Antonella, Corti Stefania, Bresolin Nereo, Comi Giacomo Pietro
机构信息
Dino Ferrari Centre, Department of Neurological Sciences, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena, University of Milan, Via Francesco Sforza 35, Milan 20122, Italy.
出版信息
Neurogenetics. 2007 Nov;8(4):301-5. doi: 10.1007/s10048-007-0095-z. Epub 2007 Aug 24.
Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and genetic features in an Italian family affected by autosomal recessive HSP (ARHSP) with mental impairment and thin corpus callosum (TCC). In both affected subjects, genetic analysis revealed the presence of a homozygous small deletion (733_734delAT) leading to a frameshift (M245VfsX) within the coding region of SPG11 gene, encoding spatacsin. This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC.
遗传性痉挛性截瘫（HSP）是一组异质性神经退行性疾病，可导致下肢进行性痉挛。在此，我们描述了一个受常染色体隐性遗传性痉挛性截瘫（ARHSP）影响的意大利家庭的临床和遗传特征，该家庭伴有智力障碍和胼胝体变薄（TCC）。在两名受影响的受试者中，基因分析显示存在一个纯合小缺失（733_734delAT），该缺失导致编码spatacsin的SPG11基因编码区内出现移码突变（M245VfsX）。这一发现首次独立证实了spatacsin功能丧失突变会导致ARHPS-TCC。
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