Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.

ABSTRACT:

Objective

Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss-of-function mutations in three CCM genes, KRIT1, CCM2, and PDCD10. However, previous studies paid little attention to analyzing the radiologic features and age-related disease burden according to the genes. Therefore, we retrospectively reviewed the genetic tests of our center's clinical FCCM patients.

Method

This study investigated clinical FCCM patients with multiple lesions or a family history of CCMs who underwent the FCCM gene (KRTI1, CCM2, and PDCD10) panel test. The clinical, genetic, and radiologic features were analyzed.

Result

Among the patients (n = 34) undergoing the FCCM gene test, twenty-seven patients had CCM confirmed by brain MRI, and twenty-one

SUBMITTER: Kim S 

PROVIDER: S-EPMC10014009 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature