A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

被引：35
|
作者：
Orlacchio, A
Gaudiello, F
Totaro, A
Floris, R
St George-Hyslop, PH
Bernardi, G
Kawarai, T
机构：
[1] IRCCS Santa Lucia, Neurogenet Lab, I-00179 Rome, Italy
[2] Univ Roma Tor Vergata, Dept Neurosci, Rome, Italy
[3] Univ Roma Tor Vergata, Dept Diagnost Imaging & Intervent Radiol, Rome, Italy
[4] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada
[5] Toronto Western Hosp, United Hlth Network, Dept Med, Div Neurol, Toronto, ON, Canada
来源：
NEUROLOGY | 2004年 / 62卷 / 10期
关键词：
D O I：
10.1212/01.WNL.0000125324.32082.D9
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital arachnoid cysts inherited as an autosomal dominant trait. A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract.
引用
收藏
页码：1875 / 1878
页数：4
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