Novel mutation of HTRA1 gene causes cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: one case
10.3760/cma.j.issn.1006-7876.2012.08.005
- VernacularTitle:HtrA丝氨酸肽酶1基因新突变导致的常染色体隐性遗传性脑动脉病伴皮质下梗死及白质脑病一例
- Author:
Wurong LI
;
Danhua ZHAO
;
Zhaoxia WANG
;
Daojun HONG
;
Wei ZHANG
;
Yun YUAN
- Publication Type:Journal Article
- Keywords:
Cerebral arterial diseases;
Cerebral infarction;
Dementia,vascular;
Serine endopeptidases;
Mutation
- From:
Chinese Journal of Neurology
2012;45(8):566-569
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo report a novel HTRA1 gene mutation caused cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) with migraine,urinary retention and constipation.MethodsThe patient was a 34-year-old woman who suffered from myalgia with cramp for 16 years,lumbago for 5 years,migraine and mild alopecia for 3 years,right hemiparesis for 5 months,and urinary retention and constipation for 1 month.Vertebral MRI showed degeneration of vertebral bodies with disc herniations.Brain MRI revealed diffuse white matter lesions and lacunar infarcts.Sural nerve and skin biopsies were performed in the patient. HTRA1 gene analysis was performed in patient,her parents and 2 brothers,and Notch3 gene analysis in the patient.ResultsThe sural biopsy demonstrated discontinuous of elastica internal with thickness of intima of arterioles.The capillary basement membranes were thickness with mini granular changes.A homozygous T to A transition at position 524( c.524T ＞ A) was found in HTRA1 gene.The heterozygous c.524T ＞ A mutation appeared in the parents and 2 brothers,but not in the controls.Notch3 mutations were not found in the patient. Conclusion CARASIL caused by novel homozygous c.524T ＞ A mutation of HTRA1 gene can present with migraine,urinary retention and constipation.
