![](/images/graphics-bg.png)
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
Joint Authors
Alafaci, Concetta
Scimone, Concetta
Salpietro, Francesco Maria
Bramanti, Placido
Tomasello, Francesco
Sidoti, Antonina
D'Angelo, Rosalia
Ruggeri, Alessia
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-08-22
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system.
CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (K-Rev interaction trapped 1 (KRIT1)), CCM2 (MGC4607), and CCM3 (PDCD10).
CCMs occur as a single or multiple malformations that can lead to seizures, focal neurological deficits, hemorrhagic stroke, and headache.
However, patients are frequently asymptomatic.
In our previous mutation screening, performed in a cohort of 95 Italian patients, both sporadic and familial, we have identified several mutations in CCM genes, three of which in three distinct sporadic patients.
In this study, representing further molecular screening of the three CCM genes, in a south Italian cohort of CCM patients enrolled by us in the last three years, we report the identification of other four new mutations in 40 sporadic patients with either single or multiple CCM.
American Psychological Association (APA)
D'Angelo, Rosalia& Alafaci, Concetta& Scimone, Concetta& Ruggeri, Alessia& Salpietro, Francesco Maria& Bramanti, Placido…[et al.]. 2013. Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients. BioMed Research International،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1030560
Modern Language Association (MLA)
D'Angelo, Rosalia…[et al.]. Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients. BioMed Research International No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-1030560
American Medical Association (AMA)
D'Angelo, Rosalia& Alafaci, Concetta& Scimone, Concetta& Ruggeri, Alessia& Salpietro, Francesco Maria& Bramanti, Placido…[et al.]. Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1030560
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1030560