A family of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- VernacularTitle:伴有皮质下梗死和白质病变的常染色体隐性遗传性脑动脉病一家系
- Author:
Bing-Zhen CAO
;
Hong-Wei GUO
;
He-Ling ZHAO
;
Ming-Qian SHANG
;
Xia CAO
;
Shu-Cai WANG
;
Jing SU
;
Gao-Feng CHANG
;
Ji-Gang TANG
;
Xiao-Ling WANG
;
Xuan ZHANG
;
Yan ZHANG
;
- Publication Type:Journal Article
- Keywords:
Dementia,multi-infarct;
Pedigree;
Proto-oncogene proteins;
Magnetic resonance imaging;
Sural nerve
- From:
Chinese Journal of Neurology
2005;0(10):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report the first family of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL)in China,and to explore its clinicopathological characteristics.Methods The clinical,imaging and pathological findings of the two patients were studied, and the sequence of the exons from 2 to 6 on Notch 3 in the chromosome 19 was detected.Results Two siblings were born from consanguineous parents.The ages at onset were 25 and 20 years old,respectively. Clinically,both of the patients were characterized by alopecia,acute lumbago,progressive intellectual deterioration,ataxia,pseudobulbar palsy and pyramidal tract signs.MRI demonstrated diffuse leucoencephalopathy and multiple subcortical infarcts on both hemisphere.The sural nerve biopsy on the elder sister demonstrated concentric thickening of vascular wall,narrowing of the lumen and mild fibrous proliferation of the intima.There were no amyloid,PAS granular deposition and uhrastructural granular osmiophilic material on the vascular wall.No mutation of exons from 2 to 6 on Notch 3 in the chromosome 19 was found by direct sequence.Conclusion The clinicopathological findings of the two patients fulfill the diagnostic criteria based on Fukutake.
