Characterization of a novel SPG3A deletion in a French-Canadian family

被引：20

作者：

Meijer, Inge A.

Dion, Patrick

Laurent, Sandra

Dupre, Nicolas

Brais, Bernard

Levert, Annie

Puymirat, Jacques

Rioux, Marie France

Sylvain, Michel

Zhu, Peng-Peng

Soderblom, Cynthia

Stadler, Julia

Blackstone, Craig

Rouleau, Guy A.

机构：

[1] Univ Montreal, Ctr Study Brain Dis, CHU Montreal, Res Ctr,Notre Dame Hosp, Montreal, PQ H3C 3J7, Canada

[2] McGill Univ, Dept Biol, Montreal, PQ H3A 1B1, Canada

[3] Univ Laval, Fac Med, Dept Neurol Sci, Ctr Hosp Affilie Univ Quebec Enfant Jesus, Quebec City, PQ G1K 7P4, Canada

[4] CHU Quebec, Quebec City, PQ, Canada

[5] CHU Sherbrooke, Serv Neurol, Sherbrooke, PQ J1H 5N4, Canada

[6] CHU Quebec, Serv Neurol Pediat, Quebec City, PQ, Canada

[7] NINDS, Cellular Neurol Unit, NIH, Bethesda, MD USA

来源：

ANNALS OF NEUROLOGY | 2007年 / 61卷 / 06期

关键词：

D O I：

10.1002/ana.21114

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Hereditary spastic paraplegias (HSPs) are characterized by progressive lower limb spasticity and weakness. Mutations in the SPG3A gene, which encodes the large guanosine triphosphatase atlastin, are the second most Common cause of autosomal dominant hereditary spastic paraplegia. In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified. Characterization of this deletion showed that it affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlastin and spastin. Interestingly, immunoblot analysis of lymphoblasts from affected patients demonstrated a significant reduction in atlastin protein levels, supporting a loss-of-function disease mechanism.

引用

页码：599 / 603

页数：5

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