SPG3A 中的 R495W 突变导致与轴索性神经病变相关的痉挛性截瘫。

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

作者信息

Scarano Valentina, Mancini Pietro, Criscuolo Chiara, De Michele Giuseppe, Rinaldi Carlo, Tucci Tecla, Tessa Alessandra, Santorelli Filippo M, Perretti Anna, Santoro Lucio, Filla Alessandro

机构信息

Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.

出版信息

J Neurol. 2005 Aug;252(8):901-3. doi: 10.1007/s00415-005-0768-1. Epub 2005 Mar 8.

DOI:10.1007/s00415-005-0768-1

PMID:15742100

Abstract

Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.

摘要

SPG3A基因的突变会导致一种与14号染色体q臂相关的纯合、早发性常染色体显性遗传性痉挛性截瘫。编码的蛋白atlastin是参与细胞运输模式的大GTP酶动力蛋白超家族的一个推定成员。我们报告了一个意大利家族中一种新的atlastin突变，该突变导致痉挛性截瘫并伴有轴索性神经病。

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Hum Mutat. 2004 Jan;23(1):98. doi: 10.1002/humu.9205.

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SPG3A 中的 R495W 突变导致与轴索性神经病变相关的痉挛性截瘫。

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

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SPG3A 中的 R495W 突变导致与轴索性神经病变相关的痉挛性截瘫。

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

作者信息

机构信息

出版信息

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