A family study of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy caused by a new locus of HTRA1 mutation
10.3760/cma.j.cn115354-20231229-00328
- VernacularTitle:HTRA1突变新位点所致的伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病一家系研究
- Author:
Xiaohong QIN
1
;
Xuemei LIU
;
Xianfeng QU
;
Fumin WANG
;
Jun XIAO
;
Jieying LI
Author Information
1. 四川省医学科学院·四川省人民医院四川省精神医学中心神经心理科，成都 611100
- Keywords:
Subcortical infarction;
Leukoencephalopathy;
Autosomal recessive inheritance;
HTRA1 gene;
Cognitive impairment
- From:
Chinese Journal of Neuromedicine
2024;23(4):397-400
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical and genetic characteristics of a family of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) caused by a new locus of HTRA1 mutation. Methods:The medical history and clinical data of a patient with CARASIL were collected, and genetic test was performed on some family members to observe the HTRA1 mutation. Results:The proband presented with cognitive impairment, suspicious lumbar lesions, and alopecia. Cranial imaging revealed extensive blank brain lesions and multiple microbleeding foci. The mother of the proband had psychiatric symptoms and stroke once, and the sixth younger sister had history of dementia and hypertension. Genetic test revealed that the proband and his two sons carried HTRA1 heterogenic mutation c.888C>G (p.I296M), and the two sons had alopecia. Conclusion:The c.888C>G(p.I296M) may be a new pathogenic mutation site of CARASIL.
