An additional family carrying a new atlastin mutation

被引：36

作者：

Tessa, A

Casali, C

Damiano, M

Bruno, C

Fortini, D

Patrono, C

Cricchi, F

Valoppi, M

Nappi, G

Amabile, GA

Bertini, E

Santorelli, FM

机构：

[1] IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy

[2] Univ Roma La Sapienza, Dept Clin Neurol, Rome, Italy

[3] Univ Genoa, IRCCS G Gaslini, Neuromuscular Serv, Dept Pediat, Genoa, Italy

[4] IRCCS Mondino Tor Vergata S Lucia, Ctr Expt Neurobiol, Rome, Italy

来源：

NEUROLOGY | 2002年 / 59卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000036902.21438.98

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

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页码：2002 / 2005

页数：4

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