Familial cerebral cavernous malformations

2021 ◽  
Author(s):  
Ali Salehpoor ◽  
Kwasi Addae-Mensah, BSC, MD ◽  
Blaine L. Hart, MD ◽  
Marc C. Mabray, MD
Keyword(s):  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Familial Cerebral Cavernous Malformations

Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes

2021 ◽  
Vol 30 (12) ◽  
pp. 106130
Author(s):  
Pablo Iruzubieta ◽  
David Campo-Caballero ◽  
Jon Equiza ◽  
Inés Albajar ◽  
Naroa Sulibarría ◽  
...  
Keyword(s):  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Familial Cerebral Cavernous Malformations ◽  
New Mutations

Mutations in KRIT1 in Familial Cerebral Cavernous Malformations

Neurosurgery ◽  
2000 ◽  
Vol 46 (5) ◽  
pp. 1272-1279 ◽  
Author(s):  
Jun Zhang ◽  
Richard E. Clatterbuck ◽  
Daniele Rigamonti ◽  
Harry C. Dietz
Keyword(s):  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Familial Cerebral Cavernous Malformations

scholarly journals Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition

Radiology ◽  
2017 ◽  
Vol 284 (2) ◽  
pp. 443-450 ◽  
Author(s):  
Corinne D. Strickland ◽  
Steven C. Eberhardt ◽  
Mary R. Bartlett ◽  
Jeffrey Nelson ◽  
Helen Kim ◽  
...  
Keyword(s):  
Ct Scans ◽  
Imaging Biomarker ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Familial Cerebral Cavernous Malformations

scholarly journals Molecular genetics of familial cerebral cavernous malformations

2006 ◽  
Vol 21 (1) ◽  
pp. 1-5 ◽  
Author(s):  
Shervin R. Dashti ◽  
Alan Hoffer ◽  
Yin C. Hu ◽  
Warren R. Selman
Keyword(s):  
Molecular Genetics ◽  
Cerebral Cavernous Malformations ◽  
Pathological Findings ◽  
Cavernous Malformations ◽  
Molecular Events ◽  
Familial Form ◽  
Hispanic Patients ◽  
Caucasian Patients ◽  
Vascular Channels ◽  
Familial Cerebral Cavernous Malformations

✓Cerebral cavernous malformations (CMs) are angiographically occult neurovascular lesions that consist of enlarged vascular channels without intervening normal parenchyma. Cavernous malformations can occur as sporadic or auto-somal-dominant inherited conditions. Approximately 50% of Hispanic patients with cerebral CMs have the familial form, compared with 10 to 20% of Caucasian patients. There is no difference in the pathological findings or presentation in the sporadic and familial forms. To date, familial CMs have been attributed to mutations at three different loci: CCM1 on 7q21.2, CCM2 on 7p15-p13, or CCM3 on 3q25.2-q27. The authors summarize the current understanding of the molecular events underlying familial CMs.

scholarly journals Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management

2008 ◽  
Vol 66 (4) ◽  
pp. 795-799 ◽  
Author(s):  
Flávio Domingues ◽  
Emerson L. Gasparetto ◽  
Ricardo Andrade ◽  
Fabio Noro ◽  
Antônio Eiras ◽  
...  
Keyword(s):  
Rio De Janeiro ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Genetic Profile ◽  
Phase Imaging ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Genetic Sequencing ◽  
Entire Cohort ◽  
Familial Cerebral Cavernous Malformations

OBJECTIVE: Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic profile and the pattern of emergent neuroimaging findings of this particular population besides a review of the updated recommendations for management of familial CCM versus patients harboring sporadic lesions. METHOD: Four families of our cohort of 9 families were genetically mapped showing mutational profile linked to CCM1. The neuroimaging paradigm was shifted from T2*gradient-echo (GRE) sequence to susceptibility weighting MR phase imaging (SWI). RESULTS: Only two index cases were subjected to surgery. There was no surgical intervention in any of the kindreds of our entire cohort of 9 families of our Neurovascular Program within seven years of follow-up. The genetic sequencing for mutacional profile in four of these families has demonstrated only CCM1 gene affected. Our management of the familial CCM is according to the review of the literature recommendations. CONCLUSIONS: The Project of Familial Cerebral Cavernous Malformations of Rio de Janeiro detected mutations of the gene CCM1 in the first four families studied. Familial cavernous malformation are to be settled apart from the more common sporadic lesion. A set of recommendations was searched for in the literature in order to deal with these specific patients and kindreds.

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