Article
PDCD10 gene mutations in multiple cerebral cavernous malformations.
PloS one - 1 Jan 2014
Cigoli Maria Sole, Avemaria Francesca, De Benedetti Stefano, Gesu Giovanni P, Accorsi Lucio Giordano, Parmigiani Stefano, Corona Maria Franca, Capra Valeria, Mosca Andrea, Giovannini Simona, Notturno Francesca, Ciccocioppo Fausta, Volpi Lilia, Estienne Margherita, De Michele Giuseppe, Antenora Antonella, Bilo Leda, Tavoni Antonietta, Zamponi Nelia, Alfei Enrico, Baranello Giovanni, Riva Daria, Penco Silvana
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Apoptosis Regulatory Proteins
- Child, Preschool
- DNA Mutational Analysis
- Female
- Hemangioma, Cavernous, Central Nervous System