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15 results on '"Buffone, Ebba"'

6. Primary Familial Brain Calcification in the 'IBGC2' Kindred: All Linkage Roads Lead to SLC20A2

Author

Gruetz, Karen, Volpato, Claudia B., Domingo, Aloysius, Alvarez-Fischer, Daniel, Gebert, Uwe, Schifferle, Guenther, Buffone, Ebba, Wszolek, Zbigniew K., Rademakers, Rosa, Ferbert, Andreas, Hicks, Andrew A., Klein, Christine, Pramstaller, Peter P., and Westenberger, Ana

Subjects
Human medicine
Abstract

Background: Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified 3 candidate loci (IBGC1-3). Recently, SLC20A2 mutations were found in the IBGC1 and IBGC3 families, merging these 2 loci. We here elucidate the genetic cause of primary familial brain calcification in the 'IBGC2' kindred. Methods: We sequenced known primary familial brain calcification genes and quantified SLC20A2 and PDGFB. Moreover, CT scans of affected and unaffected family members were evaluated by 2 blinded neuroradiologists for distribution of brain calcification. Results: A heterozygous multiexonic SLC20A2 deletion was detected in several affected family members. A reevaluation of neuroimaging data revealed a subset of mutation-negative individuals with only mild and/or unilateral calcification. Conclusions: The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. We suggest an algorithm for predicting the chances of finding genetic mutations that has to be validated in further studies. Our study enhances criteria for the evaluation of neuroimaging data, contributing further to the much needed harmonization of diagnostic and research data collection in primary familial brain calcification. (C) 2016 International Parkinson and Movement Disorder Society.

Published
2016

7. Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead toSLC20A2

Author

Grütz, Karen, primary, Volpato, Claudia B., additional, Domingo, Aloysius, additional, Alvarez-Fischer, Daniel, additional, Gebert, Uwe, additional, Schifferle, Günther, additional, Buffone, Ebba, additional, Wszolek, Zbigniew K., additional, Rademakers, Rosa, additional, Ferbert, Andreas, additional, Hicks, Andrew A., additional, Klein, Christine, additional, Pramstaller, Peter P., additional, and Westenberger, Ana, additional

Published
2016
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12. Intrathecal liposomal cytarabine in combination with temozolomide in low-grade oligoastrocytoma with leptomeningeal dissemination

Author

Passarin, Maria Grazia, primary, Moretto, Giuseppe, additional, Musso, Anna Maria, additional, Ottaviani, Sarah, additional, Masotto, Barbara, additional, Ghimenton, Claudio, additional, Iuzzolino, Paolo, additional, Buffone, Ebba, additional, Rudà, Roberta, additional, Soffietti, Riccardo, additional, Vattemi, Emanuela, additional, and Pedersini, Rebecca, additional

Published
2009
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