[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].
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.
Siegel
A M
AM
Neurologische Klinik, Universitätsspital Zürich. adrian.siegel@usz.ch
Bertalanffy
H
H
Dichgans
J J
JJ
Elger
C E
CE
Hopf
H
H
Hopf
N
N
Keidel
M
M
Kleider
A
A
Nowak
G
G
Pfeiffer
R A
RA
Schramm
J
J
Spuck
S
S
Stefan
H
H
Sure
U
U
Baumann
C R
CR
Rouleau
G A
GA
Verlaan
D J
DJ
Andermann
E
E
Andermann
F
F
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
C502544:CCM2 protein, human; D002352:Carrier Proteins; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins