Sporadic cerebral cavernous malformations: Report of further mutations of CCM genes in 40 Italian patients

Rosalia D'Angelo, Concetta Alafaci, Concetta Scimone, Alessia Ruggeri, Francesco Maria Salpietro, Placido Bramanti, Francesco Tomasello, Antonina Sidoti

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Article number459253
JournalBioMed Research International
Volume2013
DOIs
Publication statusPublished - 2013

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Medicine(all)

Fingerprint Dive into the research topics of 'Sporadic cerebral cavernous malformations: Report of further mutations of CCM genes in 40 Italian patients'. Together they form a unique fingerprint.

  • Cite this

    D'Angelo, R., Alafaci, C., Scimone, C., Ruggeri, A., Salpietro, F. M., Bramanti, P., Tomasello, F., & Sidoti, A. (2013). Sporadic cerebral cavernous malformations: Report of further mutations of CCM genes in 40 Italian patients. BioMed Research International, 2013, [459253]. https://doi.org/10.1155/2013/459253