TWO NOVEL HTRA1 MUTATIONS IN A EUROPEAN CARASIL PATIENT

被引：61

作者：

Bianchi, Silvia ^{[1
]}

Di Palma, Chiara ^{[1
]}

Gallus, Gian Nicola ^{[1
]}

Taglia, Ilaria ^{[1
]}

Poggiani, Antonella ^{[1
]}

Rosini, Francesca ^{[1
]}

Rufa, Alessandra ^{[1
]}

Muresanu, Dafin Fior ^{[2
]}

Cerase, Alfonso ^{[3
]}

Dotti, Maria Teresa ^{[1
]}

Federico, Antonio ^{[1
]}

机构：

[1] Univ Siena, Dept Med Surg & Neurol Sci, I-53100 Siena, Italy

[2] Univ Med & Pharm Iuliu Hatieganu, Dept Neurol, Cluj Napoca, Romania

[3] Azienda Osped Univ Senese, Policlin Santa Maria Scotte, Neuroimaging & Neurointervent Unit, Siena, Italy

来源：

NEUROLOGY | 2014年 / 82卷 / 10期

关键词：

GENE;

D O I：

10.1212/WNL.0000000000000202

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary nonhypertensive cause of recurrent lacunar stroke and cognitive decline associated with alopecia, spondylosis deformans, and lumbago.(1) The disease has been linked to mutations in the HTRA1 gene, encoding for serine protease HTRA1, loss of which causes dysregulation of transforming growth factor- signaling.(2</SUP)

引用

页码：898 / 900

页数：3

共 6 条

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