Background: Primary familial brain calcification (PFBC) is a rare neurodegenerative disease characterized by bilateral calcifications mostly located in the basal ganglia and in the thalami, cerebellum and subcortical white matter. Clinical manifestations of this disease include a large spectrum of movement disorders and neuropsychiatric disturbances. PFBC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. Three causative genes have been reported: SLC20A2, PDGFRB and PDGFB.
Objective: We screened three PFBC Italian families for mutations in the SLC20A2, PDGFRB and PDGFB genes.
Methods: Phenotypic data were obtained by neurologic examination, CT scan and magnetic resonance imaging. Mutation screening of SLC20A2, PDGFRB and PDGFB was performed by sequencing.
Results: We identified a new heterozygous deletion c.21_21delG (p.L7Ffs*10) in SLC20A2 gene in one of these families. No mutations were detected in the other two families.
Conclusions: Our data confirm that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Keywords: Fahr's disease; PDGFB; PDGFRB; SLC20A2.
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