scholarly journals Will There Be a Seizure? Predicting Seizures in Children (and Adults) with Familial Cerebral Cavernous Malformations

2022 ◽  
pp. 153575972110698
Author(s):  
Charuta Joshi
2021 ◽  
Vol 30 (12) ◽  
pp. 106130
Author(s):  
Pablo Iruzubieta ◽  
David Campo-Caballero ◽  
Jon Equiza ◽  
Inés Albajar ◽  
Naroa Sulibarría ◽  
...  

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

Radiology ◽  
2017 ◽  
Vol 284 (2) ◽  
pp. 443-450 ◽  
Author(s):  
Corinne D. Strickland ◽  
Steven C. Eberhardt ◽  
Mary R. Bartlett ◽  
Jeffrey Nelson ◽  
Helen Kim ◽  
...  

2006 ◽  
Vol 21 (1) ◽  
pp. 1-5 ◽  
Author(s):  
Shervin R. Dashti ◽  
Alan Hoffer ◽  
Yin C. Hu ◽  
Warren R. Selman

✓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.


2008 ◽  
Vol 66 (4) ◽  
pp. 795-799 ◽  
Author(s):  
Flávio Domingues ◽  
Emerson L. Gasparetto ◽  
Ricardo Andrade ◽  
Fabio Noro ◽  
Antônio Eiras ◽  
...  

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.


Sign in / Sign up

Export Citation Format

Share Document