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On MRI, 16 of 22 sporadic index patients had relatives with cavernous angiomas. 51 multiple-case families, including 100 patients with symptoms and 164 symptom-free individuals had MRI lesions. Most FCC patients had multiple lesions and there was a strong correlation between number of lesions and age (p<0.01). The sensitivity of gradient-echo sequences was higher than that of standard MRI for detection of small cavernous angiomas. Pattern of inheritance was autosomal dominant, with incomplete clinical penetrance. The occurrence of denovo mutations was strongly suggested in some families. Neuroimaging penetrance of FCC is much higher than clinical penetrance. 75% of sporadic cases with multiple lesions are in fact familial cases. The proportion of patients developing clinical symptoms is higher in hereditary form in the sporadic from of the disorder. |
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cavernous hemangioma familial genetic neurologic disorders malformation,vascular malformation,vascular,cerebral malformation,vascular,familial MRI MRI,abnormal MRI,gradient-echo review article
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