title: [Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].
abstract: In 1928, Hugo Friedrich Kufs reported on a family with cerebral, retinal, and cutaneous cavernous malformations. Since then, more than 300 families with inherited cavernous malformations have been reported. Genetic studies showed three loci, on chromosomes 7q21-q22 (with the gene CCM1), 7p15-p13 (CCM2), and 3q25.2-q27 (CCM3). The gene product of CCM1 is Krit 1 (Krev interaction trapped 1), a protein interacting with angiogenesis by various mechanisms. Recently, CCM2 has also been identified; its product is a protein which might have a function similar to that of Krit 1. However, the CCM3 gene has still not been found. In this study, we present clinical and genetic findings on 15 German families.
authors.affiliation: Neurologische Klinik, Universitätsspital Zürich. adrian.siegel@usz.ch
authors.forename: A M
authors.initials: AM
authors.lastname: Siegel
authors.forename: H
authors.initials: H
authors.lastname: Bertalanffy
authors.forename: J J
authors.initials: JJ
authors.lastname: Dichgans
authors.forename: C E
authors.initials: CE
authors.lastname: Elger
authors.forename: H
authors.initials: H
authors.lastname: Hopf
authors.forename: N
authors.initials: N
authors.lastname: Hopf
authors.forename: M
authors.initials: M
authors.lastname: Keidel
authors.forename: A
authors.initials: A
authors.lastname: Kleider
authors.forename: G
authors.initials: G
authors.lastname: Nowak
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: J
authors.initials: J
authors.lastname: Schramm
authors.forename: S
authors.initials: S
authors.lastname: Spuck
authors.forename: H
authors.initials: H
authors.lastname: Stefan
authors.forename: U
authors.initials: U
authors.lastname: Sure
authors.forename: C R
authors.initials: CR
authors.lastname: Baumann
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: D J
authors.initials: DJ
authors.lastname: Verlaan
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: F
authors.initials: F
authors.lastname: Andermann
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing / Q000379:methods*; D005858:Germany / Q000453:epidemiology; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000453:epidemiology* / Q000235:genetics / Q000378:metabolism*; D000075927:KRIT1 Protein; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D015995:Prevalence; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: C502544:CCM2 protein, human; D002352:Carrier Proteins; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins