Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients

Table 1

Clinical and neuroradiological features of CCM sporadic patients.

Feature	All subjects	Males	Females
	40	𝑁=17	𝑁=23
Symptomatic subjects	𝑁=36	𝑁=17	𝑁=19
Age of patients (yr)
Mean ± SD	45.6±16.3	51.35±16.04	40.5±12.8
Range	2–77	18–77	2–60
Age of onset (yr)
Mean ± SD	41.0±20.0	51.3±16.0	40.5±12.8
Range	1–71	18–77	2–60
Number of CCM lesions
Single	31	13	18
Multiple	5	4	1
Lesion seat	23 supratentorial
	12 subtentorial
	1 supra/subtentorial
Extracerebral	0
Types of first clinical manifestations
Cerebral haemorrhages
Cerebral haemorrhages + headache (1)	4
Cerebral haemorrhages + focal neurological deficits (3)
Epilepsy
Epilepsy (12)	14
Epilepsy + focal neurological deficits (2)
Focal neurological deficits
Focal neurological deficits (7)	9
Focal neurological deficits + headaches (2)
Headaches	9
Asymptomatic subjects	𝑁=4	𝑁=0	𝑁=4
Age of patients (yr)
Mean ± SD	48.2±13.0
Range	36–64
Number of CCM lesions
Single	4
Multiple
Lesion seat	Subtentorial
Extracerebral	0