000119321 001__ 119321 000119321 005__ 20240228145432.0 000119321 0247_ $$2doi$$a10.3171/2016.2.JNS152322 000119321 0247_ $$2pmid$$apmid:27153162 000119321 0247_ $$2ISSN$$a0022-3085 000119321 0247_ $$2ISSN$$a1933-0693 000119321 037__ $$aDKFZ-2017-00076 000119321 041__ $$aeng 000119321 082__ $$a610 000119321 1001_ $$aDammann, Philipp$$b0 000119321 245__ $$aCorrelation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI. 000119321 260__ $$aCharlottesville, Va.$$bAmerican Assoc. of Neurological Surgeons$$c2017 000119321 3367_ $$2DRIVER$$aarticle 000119321 3367_ $$2DataCite$$aOutput Types/Journal article 000119321 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1511337212_29010 000119321 3367_ $$2BibTeX$$aARTICLE 000119321 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000119321 3367_ $$00$$2EndNote$$aJournal Article 000119321 520__ $$aOBJECTIVE Multiple cerebral cavernous malformations (CCMs) are rare lesions that occur in sporadic or familial form. Depending on the disease form, the natural history and treatment of the lesions strongly vary. Molecular analysis of an underlying germline mutation (CCM1-3) is the most sensitive screening method to distinguish between sporadic and familial cases. However, based on the different pathomechanisms that are believed to be involved in either form, significant distinctions in the CCM-associated cerebral venous angioarchitecture should be detectable. This has not been systematically studied. METHODS A consecutive series of 28 patients with multiple CCMs (681 total) diagnosed on 1.5-T MRI underwent genetic screening for CCM1-3 mutations and high-resolution susceptibility-weighted imaging (SWI) of the cerebral venous angioarchitecture with 7-T MRI. Imaging data were analyzed to examine the CCM-associated venous angioarchitecture. Results were correlated with findings of molecular analysis for CCM1-3 mutations. RESULTS Two different SWI patterns (sporadic and familial) were found. The presence of associated developmental venous anomalies correlated with negative screening for germline mutations (11 sporadic) in all cases. All patients with confirmed familial disease showed normal underlying venous angioarchitecture. Additionally, a very unusual case of a probable somatic mutation is presented. CONCLUSIONS The SWI results of the venous angioarchitecture of multiple CCMs correlate with sporadic or familial disease. These results are consistent with the theory that venous anomalies are causative for the sporadic form of multiple CCMs. 000119321 536__ $$0G:(DE-HGF)POF3-315$$a315 - Imaging and radiooncology (POF3-315)$$cPOF3-315$$fPOF III$$x0 000119321 588__ $$aDataset connected to CrossRef, PubMed, 000119321 7001_ $$aWrede, Karsten$$b1 000119321 7001_ $$aZhu, Yuan$$b2 000119321 7001_ $$aMatsushige, Toshinori$$b3 000119321 7001_ $$aMaderwald, Stefan$$b4 000119321 7001_ $$aUmutlu, Lale$$b5 000119321 7001_ $$aQuick, Harald H$$b6 000119321 7001_ $$aHehr, Ute$$b7 000119321 7001_ $$aRath, Matthias$$b8 000119321 7001_ $$0P:(DE-He78)022611a2317e4de40fd912e0a72293a8$$aLadd, Mark$$b9$$udkfz 000119321 7001_ $$aFelbor, Ute$$b10 000119321 7001_ $$aSure, Ulrich$$b11 000119321 773__ $$0PERI:(DE-600)2026156-1$$a10.3171/2016.2.JNS152322$$gVol. 126, no. 2, p. 570 - 577$$n2$$p570 - 577$$tJournal of neurosurgery$$v126$$x0022-3085$$y2017 000119321 909CO $$ooai:inrepo02.dkfz.de:119321$$pVDB 000119321 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bJ NEUROSURG-SPINE : 2015 000119321 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS 000119321 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline 000119321 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database 000119321 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bThomson Reuters Master Journal List 000119321 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index 000119321 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection 000119321 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded 000119321 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine 000119321 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences 000119321 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews 000119321 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5 000119321 9141_ $$y2017 000119321 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)022611a2317e4de40fd912e0a72293a8$$aDeutsches Krebsforschungszentrum$$b9$$kDKFZ 000119321 9131_ $$0G:(DE-HGF)POF3-315$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vImaging and radiooncology$$x0 000119321 9201_ $$0I:(DE-He78)E020-20160331$$kE020$$lMedizinische Physik in der Radiologie$$x0 000119321 980__ $$ajournal 000119321 980__ $$aVDB 000119321 980__ $$aI:(DE-He78)E020-20160331 000119321 980__ $$aUNRESTRICTED