The clinical and genetic studies in a family of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 187-190, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-287427
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The clinical and molecular genetic features of the family accord with CADASIL.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
DNA Mutational Analysis
/
Genetic Testing
/
Cognition Disorders
/
Stroke
/
CADASIL
/
Receptors, Notch
/
Genetics
/
Infarction
/
Mutation
Type of study:
Prognostic study
/
Risk factors
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article
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