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

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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… Click to show full abstract

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.

Keywords: familial cerebral; age related; disease; related disease; cavernous malformation; cerebral cavernous

Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2023

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