Electromyography ; Electrophysiology ; Genetic Testing ; Humans ; Neuromuscular Diseases ; diagnosis ; genetics

Heart ; Humans ; Molecular Biology ; Neuromuscular Diseases/genetics* ; Phenotype

OBJECTIVETo investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

METHODSA 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.

RESULTSThe 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.

CONCLUSIONThe clinical and molecular genetic features of the family accord with CADASIL.

Adult ; CADASIL ; genetics ; pathology ; physiopathology ; Cognition Disorders ; etiology ; DNA Mutational Analysis ; Female ; Genetic Testing ; Humans ; Infarction ; etiology ; Male ; Middle Aged ; Mutation ; Neuromuscular Diseases ; etiology ; Receptors, Notch ; genetics ; Stroke ; etiology