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Cerebral Cavernous Malformations: the CCM Italia research network offers new therapeutic perspectives

Authors: GOITRE, Luca; Cutano V.; TRAPANI, ELIANA; Morina A.; Canzoneri R.; PERGOLIZZI, Barbara; Gianoglio S.; +9 Authors

Cerebral Cavernous Malformations: the CCM Italia research network offers new therapeutic perspectives

Abstract

Cerebral Cavernous Malformation (CCM), also known as Cavernous Angioma or Cavernoma, is a major cerebrovascular disease characterized by abnormally enlarged and leaky capillary cavities (caverns) that may occur in either sporadic or hereditary forms and predispose to a plethora of serious clinical symptoms, including recurrent headaches, seizures, neurological deficits, stroke, and intracerebral hemorrhage. CCM lesions may be single or multiple (even hundreds), ranging in size from a few millimeters to a few centimeters. Symptomatic disease typically begins in the third through fifth decades of life, although symptomatic lesions have been described in all age groups with no sex predominance. Diagnosis is made by magnetic resonance imaging (MRI). The CCM disease has been recognized as a common clinical entity: its prevalence in the general population ranges between 0.3% and 0.5%, accounting for approximately 24 million people worldwide, with a major impact on quality of life and significant socio-economical consequences. Nevertheless, knowledge and risk awareness of this disease is still poor within the society and very low even among medical doctors. To date, there are not direct therapeutic approaches, besides the surgical removal of accessible lesions in patients with recurrent hemorrhage or intractable seizures. To find insights and facilitate breakthroughs into CCM pathogenesis mechanisms and their translational implementation, we established the CCM_Italia multidisciplinary research network (http://www.ccmitalia.unito.it/), which is composed of clinical and research centers located in distinct Italian regions. Through the integrated cooperation of clinicians and researchers with complementary expertise and interests related to distinct aspects of the CCM disease, we contributed significantly to the characterization of molecular mechanisms underlying CCM disease, providing fundamental insights into the development of novel, safe and effective therapeutic strategies.

Country
Italy
Related Organizations
Keywords

Cerebral Cavernous Malformation (CCM); Cerebrovascular disease; Molecular Mechanisms of CCM Pathogenesis; KRIT1

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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