Article
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Neurogenetics - 1 Feb 2013
Hsu Sandy Chan, Sears Renee L, Lemos Roberta R, Quintáns Beatriz, Huang Alden, Spiteri Elizabeth, Nevarez Lisette, Mamah Catherine, Zatz Mayana, Pierce Kerrie D, Fullerton Janice M, Adair John C, Berner Jon E, Bower Matthew, Brodaty Henry, Carmona Olga, Dobricić Valerija, Fogel Brent L, García-Estevez Daniel, Goldman Jill, Goudreau John L, Hopfer Suellen, Janković Milena, Jaumà Serge, Jen Joanna C, Kirdlarp Suppachok, Klepper Joerg, Kostić Vladimir, Lang Anthony E, Linglart Agnès, Maisenbacher Melissa K, Manyam Bala V, Mazzoni Pietro, Miedzybrodzka Zofia, Mitarnun Witoon, Mitchell Philip B, Mueller Jennifer, Novaković Ivana, Paucar Martin, Paulson Henry, Simpson Sheila A, Svenningsson Per, Tuite Paul, Vitek Jerrold, Wetchaphanphesat Suppachok, Williams Charles, Yang Michele, Schofield Peter R, de Oliveira João R M, Sobrido María-Jesús, Geschwind Daniel H, Coppola Giovanni
Abstract excerpt
Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene...
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