SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation
SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation
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DOI：
10.1007/s10048-007-0095-z
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发表时间：
2007-11-01
期刊：
影响因子：
2.2
通讯作者：
Comi, Giacomo Pietro
中科院分区：
文献类型：
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作者：
Del Bo, Roberto;Di Fonzo, Alessio;Comi, Giacomo Pietro
遗传性痉挛性截瘫（HSP）是一组异质性神经退行性疾病，导致下肢进行性痉挛。在这里，我们描述了一个意大利家庭的临床和遗传特征，受常染色体隐性热休克蛋白（ARHSP）与精神障碍和薄胼胝体（TCC）。在这两名受影响的受试者中，遗传分析显示存在纯合小缺失（733_734delAT），导致SPG 11基因编码区（编码spatacsin）内的移码（M245 VfsX）。这一发现是首次独立证实spatacsin功能缺失突变导致ARHPS-TCC。
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.