SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

被引：90

作者：

Namekawa, M

Ribai, P

Nelson, I

Forlani, S

Fellmann, F

Goizet, C

Depienne, C

Stevanin, G

Ruberg, M

Dürr, A

Brice, A

机构：

[1] Hop La Pitie Salpetriere, INSERM U679, Federat Inst Neurosci Res IFR70, F-75651 Paris 13, France

[2] Hosp Salpetriere, AP HP, Dept Genet Cytogenet & Embryol, Paris, France

[3] Hosp Salpetriere, AP HP, Federat Neurol, Paris, France

[4] Univ Paris 06, Salpetriere Med Schn, Paris, France

[5] CHU Besancon, F-25030 Besancon, France

[6] CHU Bordeaux, Dept Neurogenet, Bordeaux, France

来源：

NEUROLOGY | 2006年 / 66卷 / 01期

关键词：

D O I：

10.1212/01.wnl.0000191390.20564.8e

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years (31.8%). Later onset was not observed. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap.

引用

页码：112 / 114

页数：3

共 7 条

[1] Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J].