Genetics of cavernous angiomas

被引：251

作者：

Labouge, Pierre

Denier, Christian

Bergarnetti, Francoise

Tournier-Lasserve, Elisabeth

机构：

[1] INSERM, U740, F-75654 Paris 13, France

[2] Univ Paris 07, Fac Med, Paris, France

[3] CHU Nimes, Neurol Serv, Nimes, France

[4] Grp Hosp Lariboisiere Fernand Widal, APHP, Grp Hosp Univ Nord, Genet Lab, Paris, France

来源：

LANCET NEUROLOGY | 2007年 / 6卷 / 03期

关键词：

D O I：

10.1016/S1474-4422(07)70053-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large series of patients with a genetic form of the disease are now available. In addition, three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. These recent developments in clinical and molecular genetics have given us useful information about clinical care and genetic counselling and have broadened our understanding of the mechanisms of this disorder.

引用

页码：237 / 244

页数：8

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