Article
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Brain : a journal of neurology - 1 Nov 2013
Nicolas Gaël, Pottier Cyril, Charbonnier Camille, Guyant-Maréchal Lucie, Le Ber Isabelle, Pariente Jérémie, Labauge Pierre, Ayrignac Xavier, Defebvre Luc, Maltête David, Martinaud Olivier, Lefaucheur Romain, Guillin Olivier, Wallon David, Chaumette Boris, Rondepierre Philippe, Derache Nathalie, Fromager Guillaume, Schaeffer Stéphane, Krystkowiak Pierre, Verny Christophe, Jurici Snejana, Sauvée Mathilde, Vérin Marc, Lebouvier Thibaud, Rouaud Olivier, Thauvin-Robinet Christel, Rousseau Stéphane, Rovelet-Lecrux Anne, Frebourg Thierry, Campion Dominique, Hannequin Didier
Abstract excerpt
Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have recently been reported. Diagnosing idiopathic basal ganglia calcification necessitates the exclusion of other causes, including calcification related to normal ageing, for which no normative...
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