CADASIL with clinical manifestations of baldness, lumbago and Parkinson's symptoms / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms.</p><p><b>METHODS</b>Clinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing.</p><p><b>RESULTS</b>The symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine. Cranial MRI of the patient showed bilateral symmetric leukoencephalopathy and multiple small subcortical lacunar infarcts. A point mutation in exon 11 of the NOTCH3 gene (R558C) was discovered in the proband and four asymptomatic relatives.</p><p><b>CONCLUSION</b>CADASIL is characterized by recurrent subcortical ischemic stroke, dementia, pseudobulbar palsy, and mood disturbance. Baldness, lumbago and Parkinson's symptoms may also be seen in such patients.</p>