Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2

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 t...

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Veröffentlicht in:	Movement disorders 2016-12, Vol.31 (12), p.1901-1904
Hauptverfasser:	Grütz, Karen, Volpato, Claudia B., Domingo, Aloysius, Alvarez-Fischer, Daniel, Gebert, Uwe, Schifferle, Günther, Buffone, Ebba, Wszolek, Zbigniew K., Rademakers, Rosa, Ferbert, Andreas, Hicks, Andrew A., Klein, Christine, Pramstaller, Peter P., Westenberger, Ana
Format:	Artikel
Sprache:	eng
Schlagworte:	Basal Ganglia Diseases - diagnostic imaging Basal Ganglia Diseases - genetics Calcinosis - diagnostic imaging Calcinosis - genetics exonic deletions Humans IBGC Movement disorders Neurodegenerative Diseases - diagnostic imaging Neurodegenerative Diseases - genetics Pedigree PFBC quantitative PCR (qPCR) Single-Blind Method SLC20A2 Sodium-Phosphate Cotransporter Proteins, Type III - genetics
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