| Autor: |
Magistrelli L; Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale and 'Maggiore della Carità' University Hospital, Novara, Italy.; PhD Program in Clinical and Experimental Medicine and Medical Humanities, University of Insubria, Varese, Italy., Croce R; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., De Marchi F; Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale and 'Maggiore della Carità' University Hospital, Novara, Italy.; ALS Center, Department of Neurology, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy., Basagni C; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Carecchio M; Department of Neuroscience, University of Padua, Padua, Italy., Nasuelli N; SS Trinità Hospital, Borgomanero, ASL Novara, Novara, Italy., Cantello R; Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale and 'Maggiore della Carità' University Hospital, Novara, Italy., Invernizzi F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Comi C; Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale and 'Maggiore della Carità' University Hospital, Novara, Italy., Mazzini L; ALS Center, Department of Neurology, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Corrado L; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy. Lucia.corrado@med.uniupo.it. |
| Abstrakt: |
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 movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2. |
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