Identification of MYORG as a New Causative Gene for Primary Familial Brain Calcification

摘要

Brain calcification has aging-associated prevalence that increases from^1%in young people to more than 20%in the elderly.Patients with bulk brain calcification usually present progressive movement disorders(dystonia,ataxia,parkinsonism,chorea),neuropsychiatric symptoms and cognitive dysfunction.Identification of the genetic basis using pedigrees of primary familial brain calcification(PFBC),characterized by bilateral pathological