Abstract Details

Title Clinical, Pathological, Magnetic Resonance Imaging Features of a Chinese Family with Cerebral Cavernous Malformation Induced by a Novel CCM1 Gene Mutation

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P07 - (-)

Poster/Presentation
Number 232

Objective

Background BACKGROUND: Familial cerebral cavernous malformation(CCM), characterized by hemorrhagic stroke, recurrent headaches and epilepsy, is caused by abnormal capillary telangiectasis of central nervous system. Family CCM is an autosomal dominant inherited disorder and three CCM genes have been identified.

Design/Methods DESIGN/METHODS: In the Chinese family, all individuals underwent brain magnetic resonance imaging (MRI) examination and clinical check. The special patients with surgical indications had surgical treatment and the specimens were performed histopathological examination. In addition, polymerase chain reaction (PCR) and direct sequence analysis were performed with genomic DNA extracted from 25 family members' blood samples for mutation detection.

Results RESULTS: Among the 25 individuals participating in our investigation, 7 patients with CCM, including 5 male, 2 female. The clinical manifestations are variable as well as the age of onset and number of lesions within the family.MRI and Gradient-echo(GRE) sequence are more sensitive to find microcavernous hemangiomas .Histopathologic examination results show CCM lesions are typically discrete multisublobes berrylike lesions. They consist of endothelial-linked sinusoidal spaces not separated by significant amounts of neural tissue. Mutation detection in all the affected patients shows a novel mutation, deletion of a T (c.1396delT) in exon 14 of CCM1 gene.

Conclusions CONCLUSIONS: The diversity clinical manifestations have varied to a large extent on the age of onset and severity, there is a strong correlation between number of lesions and age: the younger, the less. The skin and brain CCM coincidence rate is 100%. MRI is the most sensitive modality for the diagnosis of CCM. Pathological examination can only used for patients with serious hemiplegia and surgical indications. A novel mutation (c.1396delT) is co-segregated with the phenotype of patients and the disease-causing mutation for this family.

Authors/Disclosures
PRESENTER	No disclosure on file
	No disclosure on file
Nora S. Lee, MD	No disclosure on file
	No disclosure on file
Edward Fox, MD, PhD, FAAN	Dr. Fox has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion Pharmaceuticals. Dr. Fox has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genentech. Dr. Fox has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen. Dr. Fox has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for EMD Serono. Dr. Fox has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for GW Pharmaceuticals. Dr. Fox has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TG Therapeutics. Dr. Fox has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bristol Myers Squibb. Dr. Fox has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Fox has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Fox has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Alexion. Dr. Fox has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. Dr. Fox has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Genentech. Dr. Fox has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Bristol Myers Squibb. The institution of Dr. Fox has received research support from Biogen. The institution of Dr. Fox has received research support from Genentech. The institution of Dr. Fox has received research support from Celgene - BMS. The institution of Dr. Fox has received research support from Chugai. The institution of Dr. Fox has received research support from Novartis. The institution of Dr. Fox has received research support from EMD-Serono. The institution of Dr. Fox has received research support from TG Therapeutics. The institution of Dr. Fox has received research support from AbbVie. The institution of Dr. Fox has received research support from Sanofi Genzyme. The institution of Dr. Fox has received research support from AbbVie.

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