Authors
Sandy Chan Hsu, Renee L Sears, Roberta R Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D Pierce, Janice M Fullerton, John C Adair, Jon E Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobricić, Brent L Fogel, Daniel García-Estevez, Jill Goldman, John L Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E Lang, Agnès Linglart, Melissa K Maisenbacher, Bala V Manyam, Pietro Mazzoni, Zofia Miedzybrodzka, Witoon Mitarnun, Philip B Mitchell, Jennifer Mueller, Ivana Novaković, Martin Paucar, Henry Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold Vitek, Suppachok Wetchaphanphesat, Charles Williams, Michele Yang, Peter R Schofield, João RM De Oliveira, Maria-Jesus Sobrido, Daniel H Geschwind, Giovanni Coppola
Publication date
2013/2
Journal
Neurogenetics
Volume
14
Pages
11-22
Publisher
Springer-Verlag
Description
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 found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were …
Scholar articles
SC Hsu, RL Sears, RR Lemos, B Quintáns, A Huang… - Neurogenetics, 2013