Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Davenport, W.J.
Right arrow Articles by Rouleau, G.A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Davenport, W.J.
Right arrow Articles by Rouleau, G.A.
Neurology 2001;56:540-543
© 2001 American Academy of Neurology
Brief Communications

CCM1 gene mutations in families segregating cerebral cavernous malformations

W.J. Davenport, MD;, A.M. Siegel, MD;, J. Dichgans, MD;, P. Drigo, MD;, I. Mammi, MD;, P. Pereda, MD;, N.W. Wood, MD; and G.A. Rouleau, MD

From the Center for Research in the Neurosciences, Montreal General Hospital, and Department of Neurology and Neurosurgery (Drs. Davenport and Rouleau), McGill University, Montreal, Quebec, Canada; Epilepsy Program (Dr. Siegel), Department of Neurology, University Hospital Zürich, Switzerland; Department of Neurology (Dr. Dichgans), University of Tübingen, Germany; Department of Pediatrics (Drs. Drigo and Mammi), University of Padua, Italy; Clinica Neurologica (Dr. Pereda), Ospedalo Universitario, Montevideo, Uruguay; and the Institute of Neurology and Neurogenetics (Dr. Wood), National Hospital for Neurology and Neurosurgery, London, United Kingdom.

Address correspondence and reprint requests to Dr. Guy Rouleau, Center for Research in Neurosciences, Montreal General Hospital, and Department of Neurology and Neurosurgery, McGill University, 1650 Cedar Avenue, Montreal, Quebec, H3G 1A4 Canada; e-mail: mi32{at}musica.mcgill.ca

Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes inherited as an autosomal dominant trait, which can cause strokes and seizures. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 families and five seemingly sporadic cases of CCM. The mutations predicted truncation of the Krit1 mRNA encoded by CCM1, supporting the contention that CCM result from loss of Krit1 protein function and the possibility that this protein acts as a tumor suppressor.




This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
A. L. Akers, E. Johnson, G. K. Steinberg, J. M. Zabramski, and D. A. Marchuk
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis
Hum. Mol. Genet., March 1, 2009; 18(5): 919 - 930.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
S. Battistini, R. Rocchi, A. Cerase, A. Citterio, L. Tassi, G. Lando, M. C. Patrosso, R. Galli, P. Brunori, D. L. Sgro, et al.
Clinical, Magnetic Resonance Imaging, and Genetic Study of 5 Italian Families With Cerebral Cavernous Malformation
Arch Neurol, June 1, 2007; 64(6): 843 - 848.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
P. Reich, J. Winkler, A. Straube, H.J. Steiger, and A. Peraud
Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas
Neurology, April 8, 2003; 60(7): 1135 - 1138.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
D. A. Marchuk, S. Srinivasan, T. L. Squire, and J. S. Zawistowski
Vascular morphogenesis: tales of two syndromes
Hum. Mol. Genet., April 2, 2003; 12(90001): R97 - 112.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
M. Gunel, M. S. H. Laurans, D. Shin, M. L. DiLuna, J. Voorhees, K. Choate, C. Nelson-Williams, and R. P. Lifton
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein
PNAS, August 6, 2002; 99(16): 10677 - 10682.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
D. J. Verlaan, W. J. Davenport, H. Stefan, U. Sure, A. M. Siegel, and G. A. Rouleau
Cerebral cavernous malformations: Mutations in Krit1
Neurology, March 26, 2002; 58(6): 853 - 857.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. S. Zawistowski, I. G. Serebriiskii, M. F. Lee, E. A. Golemis, and D. A. Marchuk
KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis
Hum. Mol. Genet., February 1, 2002; 11(4): 389 - 396.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. Zhang, R. E. Clatterbuck, D. Rigamonti, D. D. Chang, and H. C. Dietz
Interaction between krit1 and icap1{alpha} infers perturbation of integrin {beta}1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation
Hum. Mol. Genet., December 1, 2001; 10(25): 2953 - 2960.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2001 by AAN Enterprises, Inc.