Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

被引：21

作者：

Fusco, Carlo ^{[1
]}

Frattini, Daniele ^{[1
]}

Farnetti, Enrico ^{[2
]}

Nicoli, Davide ^{[2
]}

Casali, Bruno ^{[2
]}

Fiorentino, Francesco ^{[3
]}

Nuccitelli, Andrea ^{[3
]}

Della Giustina, Elvio ^{[1
]}

机构：

[1] Arcispedale Santa Maria Nuova, Child Neurol Unit, I-42100 Reggio Emilia, Italy

[2] Santa Maria Nuova, Mol Biol Unit, Reggio Emilia, Italy

[3] Genoma Labs, Rome, Italy

来源：

BRAIN & DEVELOPMENT | 2010年 / 32卷 / 07期

关键词：

Hereditary spastic paraplegia; SPG3A; Axonal neuropathy;

D O I：

10.1016/j.braindev.2009.08.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. Most patients with an SPG3A mutation present with a pure phenotype and early-onset disease, although complicated forms with peripheral neuropathy are also reported. We report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy in a 4-year-old girl resembling diplegic cerebral palsy. (C) 2009 Elsevier B.V. All rights reserved.

引用

页码：592 / 594

页数：3

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