Study of a CADASIL family with migraine as the presenting symptom / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 511-514, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247645
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical features and genetic cause for a family affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).</p><p><b>METHODS</b>Clinical manifestations, neuroimaging, and genetic analysis were performed.</p><p><b>RESULTS</b>The main clinical features have included stroke, emotional disturbance and history of migraine without progressive memory impairment. A positive family history was confirmed. Cranial MRI has revealed multi-infarct lesions and white matter hyperintensity involving bilateral basal ganglia, subcortex and brain stem. All such features were in keeping with the diagnosis of CADASIL. A rare 2182C>T mutation in exon 14 of the NOTCH3 gene was identified in all available cases.</p><p><b>CONCLUSION</b>Both clinical and molecular features suggested that the family has been affected with CADASIL.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Receptors, Notch
/
Receptor, Notch3
/
Genetics
/
Migraine Disorders
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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