[The clinical and genetic studies in a family of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].
OBJECTIVE
To investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).


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


RESULTS
The main clinical features including poor memory and history of stroke were found. And no risk factors of hypertension and arteriosclerosis were found. A positive family history was confirmed. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. All these features are in conformity with those of CADASIL. A mutation in the third and fourth exon of the NOTCH3 gene was identified in the 10 cases of 4 generations. The clinical or subclinical onset in the 10 cases was consistent with classical autosomal dominant inheritance.


CONCLUSIONS
The clinical and molecular genetic features of the family accord with CADASIL.
Department of Neurology, Central South University, Changsha, People's Republic of China.
Li-fang
LF
Zhang
Xiao-su
XS
Yang
Yu-fen
YF
Wang
Lan-tian
LT
Pei
D000328:Adult; D046589:CADASIL / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003072:Cognition Disorders / Q000209:etiology; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007238:Infarction / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009468:Neuromuscular Diseases / Q000209:etiology; D051880:Receptors, Notch / Q000235:genetics*; D020521:Stroke / Q000209:etiology
D051880:Receptors, Notch