Article
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Neurogenetics - 1 Mar 2021
Magistrelli Luca, Croce Roberta, De Marchi Fabiola, Basagni Chiara, Carecchio Miryam, Nasuelli Nicola, Cantello Roberto, Invernizzi Federica, Garavaglia Barbara, Comi Cristoforo, Mazzini Letizia, D'Alfonso Sandra, Corrado Lucia
Abstract excerpt
Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with...
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