Monica Gagliardi1, Maurizio Morelli2, Grazia Annesi3, Giuseppe Nicoletti3, Paolo Perrotta3, Giuseppe Pustorino2, Grazia Iannello4, Patrizia Tarantino3, Antonio Gambardella3, Aldo Quattrone4. 1. Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: monicg_2002@yahoo.it. 2. Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy. 3. Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. 4. Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
Abstract
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.
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.