Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene

被引：29

作者：

Chinnery, PF

Keers, SM

Holden, MJ

Ramesh, V

Dalton, A

机构：

[1] Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Newcastle Gen Hosp, Dept Paediat Neurol, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

[3] Sheffield Childrens NHS Trust, N Trent Mol Genet Serv, Sheffield, S Yorkshire, England

来源：

NEUROLOGY | 2004年 / 63卷 / 04期

关键词：

D O I：

10.1212/01.WNL.0000135346.63675.3E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the spastin gene in affected individuals, particularly if the index case has an unusual phenotype.

引用

页码：710 / 712

页数：3

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