Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile G A, Bertini E, Santorelli F M
Molecular Medicine and Neurology, IRCCS-Bambino Gesú Hospital, Rome, Italy.
Neurology. 2002 Dec 24;59(12):2002-5. doi: 10.1212/01.wnl.0000036902.21438.98.
The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role. By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.
作者报告了SPG3A基因中的一种新型移码突变（c.1688insA），该突变导致基因产物atlastin的翻译提前终止。这些数据为常染色体显性遗传性痉挛性截瘫（ADHSP）的第二个致病基因增添了一个新的变异，并为其致病作用提供了确凿的支持。通过联合对SPAST和SPG3A进行直接检测，现在至少50%的ADHSP家系能够获得恰当的基因诊断。
