Study of a CADASIL family with migraine as the presenting symptom / 中华医学遗传学杂志

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>