scholarly journals Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI

2017 ◽  
Vol 126 (2) ◽  
pp. 570-577 ◽  
Author(s):  
Philipp Dammann ◽  
Karsten Wrede ◽  
Yuan Zhu ◽  
Toshinori Matsushige ◽  
Stefan Maderwald ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Screening Method ◽  
7 Tesla ◽  
Susceptibility Weighted Imaging ◽  
Consecutive Series ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Venous Anomalies ◽  
Familial Disease ◽  
Familial Form

OBJECTIVE Multiple cerebral cavernous malformations (CCMs) are rare lesions that occur in sporadic or familial form. Depending on the disease form, the natural history and treatment of the lesions strongly vary. Molecular analysis of an underlying germline mutation (CCM1–3) is the most sensitive screening method to distinguish between sporadic and familial cases. However, based on the different pathomechanisms that are believed to be involved in either form, significant distinctions in the CCM-associated cerebral venous angioarchitecture should be detectable. This has not been systematically studied. METHODS A consecutive series of 28 patients with multiple CCMs (681 total) diagnosed on 1.5-T MRI underwent genetic screening for CCM1–3 mutations and high-resolution susceptibility-weighted imaging (SWI) of the cerebral venous angioarchitecture with 7-T MRI. Imaging data were analyzed to examine the CCM-associated venous angioarchitecture. Results were correlated with findings of molecular analysis for CCM1–3 mutations. RESULTS Two different SWI patterns (sporadic and familial) were found. The presence of associated developmental venous anomalies correlated with negative screening for germline mutations (11 sporadic) in all cases. All patients with confirmed familial disease showed normal underlying venous angioarchitecture. Additionally, a very unusual case of a probable somatic mutation is presented. CONCLUSIONS The SWI results of the venous angioarchitecture of multiple CCMs correlate with sporadic or familial disease. These results are consistent with the theory that venous anomalies are causative for the sporadic form of multiple CCMs.

scholarly journals Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations

2021 ◽  
Author(s):  
Concetta Scimone ◽  
Rosalia D'Angelo ◽  
Simona Alibrandi ◽  
Fabiana Nicita ◽  
Luigi Donato ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Gene Expression Regulation ◽  
Mutational Analysis ◽  
Vascular Lesions ◽  
Cerebral Cavernous Malformations ◽  
Nucleotide Polymorphisms ◽  
Cavernous Malformations ◽  
Familial Form ◽  
Noncoding Exon ◽  
History Of

Cerebral cavernous malformations (CCM) are vascular lesions affecting brain microvessels. While molecular bases of the sporadic condition are not yet well elucidated, familial forms arise following mutations at three different loci KRIT1, CCM2 and PDCD10. However, no germline mutations are detected in a small percentage of families with hereditary history of CCM. In order to detect other possible candidate genes, we performed molecular analysis of SERPINI1 gene in a cohort of patients carrying no mutations in the three CCM loci, aiming to detect mutations likely associated to lesion development. Therefore, we performed molecular analysis of the SERPINI1 gene in a cohort of 18 unrelated patients affected by both familial and sporadic CCM showing no germline causative mutations. Mutational analysis resulted negative and only few single nucleotide polymorphisms were detected. However, the rs11284733 SNP was detected in a high percentage of patients affected by familial form of the disease. This SNP occurs within a noncoding exon retained in an alternative spliced SERPINI1 transcript, suggesting its possible role in gene expression regulation.

Cerebral cavernous malformations and developmental venous anomalies

2010 ◽  
pp. 189-220
Author(s):  
Philippe Metellus ◽  
Siddharth Kharkar ◽  
Doris Lin ◽  
Sumit Kapoor ◽  
Daniele Rigamonti
Keyword(s):  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Venous Anomalies ◽  
Developmental Venous Anomalies

Susceptibility weighted magnetic resonance imaging of cerebral cavernous malformations: prospects, drawbacks, and first experience at ultra–high field strength (7-Tesla) magnetic resonance imaging

2010 ◽  
Vol 29 (3) ◽  
pp. E5 ◽  
Author(s):  
Philipp Dammann ◽  
Markus Barth ◽  
Yuan Zhu ◽  
Stefan Maderwald ◽  
Marc Schlamann ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Mr Imaging ◽  
High Field ◽  
Susceptibility Weighted Imaging ◽  
Cerebral Cavernous Malformations ◽  
Resonance Imaging ◽  
High Field Strength ◽  
Ultra High Field ◽  
Cavernous Malformations

High-resolution susceptibility weighted MR imaging at high field strength provides excellent depiction of venous structures, blood products, and iron deposits, making it a promising complementary imaging modality for cerebral cavernous malformations (CCMs). Although already introduced in 1997 and being constantly improved, susceptibility weighted imaging is not yet routine in clinical neuroimaging protocols for CCMs. In this article, the authors review the recent literature dealing with clinical and scientific susceptibility weighted imaging of CCMs to summarize its prospects and drawbacks and provide their first experience with its use in ultra–high field (7-T) MR imaging.

Familial form of cerebral cavernous malformations: evaluation of gradient-spin-echo (GRASE) imaging in lesion detection and characterization at 1.5 T

2001 ◽  
Vol 43 (11) ◽  
pp. 973-979 ◽  
Author(s):  
L. Brunereau ◽  
C. Leveque ◽  
P. Bertrand ◽  
F. Tranquart ◽  
Y. Cordoliani ◽  
...  
Keyword(s):  
Spin Echo ◽  
Lesion Detection ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Familial Form

The venous angioarchitecture of sporadic cerebral cavernous malformations: a susceptibility weighted imaging study at 7 T MRI

2012 ◽  
Vol 84 (2) ◽  
pp. 194-200 ◽  
Author(s):  
Philipp Dammann ◽  
Karsten H Wrede ◽  
Stefan Maderwald ◽  
Nicolai El Hindy ◽  
Oliver Mueller ◽  
...  
Keyword(s):  
Imaging Study ◽  
Susceptibility Weighted Imaging ◽  
Cerebral Cavernous Malformations ◽  
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 Accuracy of SWI sequences compared to T2*-weighted gradient echo sequences in the detection of cerebral cavernous malformations in the familial form

2016 ◽  
Vol 29 (5) ◽  
pp. 326-335 ◽  
Author(s):  
Gianvincenzo Sparacia ◽  
Claudia Speciale ◽  
Aurelia Banco ◽  
Francesco Bencivinni ◽  
Massimo Midiri
Keyword(s):  
Cerebral Cavernous Malformations ◽  
Gradient Echo ◽  
Cavernous Malformations ◽  
Familial Form
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