Fig. 1

Family pedigree. Black filled symbols represent patients. Grey filled symbols refer to patient’s daughter who had GFAP mutations but without neurological signs or symptoms. Empty symbols represent healthy subjects. Half-filled symbols refer to presumably affected ancestor. Question marks mean subjects potentially affected without neurological signs or symptoms, not examined nor tested for GFAP mutations. Oblique slash means the deceased. Black arrow mark represents the propositus (our patient). Patient III-3 and her daughter (patient IV-4) performed the molecular diagnosis. Although the family member (II-1) had similar psychological manifestations, the detailed medical record was not obtained and not examined for GFAP mutations