MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS
P Labauge, B Fontaine, JP Neau, F Bergametti… - Neurology, 2009 - AAN Enterprises
P Labauge, B Fontaine, JP Neau, F Bergametti, F Riant, A Blecon, F Marchelli, M Arnoult…
Neurology, 2009•AAN EnterprisesMethods and results. A consecutive cohort of 267 CCM index patients with either multiple
lesions or an affected relative who gave written informed consent were screened for
mutations within the three CCM genes as previously reported. 3 This study was approved by
our local ethics committee. Genetic screening identified a deleterious mutation in 197 of
these index patients, which constituted our study group. Clinical manifestations and
mutations of 128 of these index patients were previously reported. 2 A total of 129 out of the …
lesions or an affected relative who gave written informed consent were screened for
mutations within the three CCM genes as previously reported. 3 This study was approved by
our local ethics committee. Genetic screening identified a deleterious mutation in 197 of
these index patients, which constituted our study group. Clinical manifestations and
mutations of 128 of these index patients were previously reported. 2 A total of 129 out of the …
Methods and results.
A consecutive cohort of 267 CCM index patients with either multiple lesions or an affected relative who gave written informed consent were screened for mutations within the three CCM genes as previously reported. 3 This study was approved by our local ethics committee. Genetic screening identified a deleterious mutation in 197 of these index patients, which constituted our study group. Clinical manifestations and mutations of 128 of these index patients were previously reported. 2 A total of 129 out of the 197 index patients had a CCM1 mutation (65.4%), 39 had a CCM2 mutation (19.7%), and 29 had a CCM3 mutation (14.7%)(data not shown).
American Academy of Neurology