[A study of subcortical infarcts and leukoencephalopathy (CADASIL) in a family with autosomal cerebral dominant arteriopathy].
OBJECTIVE
To investigate the clinical features, hereditary pattern, neuroimaging characteristics and diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).


METHODS
A systematic study on the clinical manifestations, neuroimaging characteristics, pathology and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family tree of the proband was also done.


RESULTS
The main clinical features of the proband including history of recurrent ischemic stroke, poor memory/cognition or dementia were noted. Fifteen cases pertaining to 4 generations of the proband with clinical or subclinical onset and confirmed classical family history of autosomal dominant hereditary were studied. Neuroimaging examination showed subcortical multiinfarct lesions and leukoencephalopathy. Electron microscope examination of the skin. Biopsy indicated thickening of basement membrane and presence of granular osmiophilic material (GOM) in the arterioles. A mutation on the fourth exon of notch 3 gene was revealed. Migraine, hypertension, diabetes and risk factors of arteriosclerosis were not found. All the features mentioned above in this family are in conformity with the diagnostic standard of CADASIL.


CONCLUSIONS
It is possible to define CADASIL clinically by way of studying the clinical features, hereditary pattern, neuroimaging characteristics, skin biopsy and sequencing of gene without resorting to brain biopsy.
Jin
De-xin
DX
Department of Neurology, the First Affiliated Hospital of Wenzhou Medical College, Zhejiang Province 325000, China. jindx@hosp1.ac.cn
Chen
Xiu-yun
XY
Zhang
Xu
X
D046589:CADASIL / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D012867:Skin / Q000473:pathology
D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface