Journal of Molecular Neuroscience

, Volume 39, Issue 3, pp 346–353

2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family

Authors

  • Claudia Béu Volpato
    • Institute of Genetic MedicineEuropean Academy Bozen/Bolzano (EURAC)
  • Alessandro De Grandi
    • Institute of Genetic MedicineEuropean Academy Bozen/Bolzano (EURAC)
  • Ebba Buffone
    • Department of NeurologyCentral Hospital
  • Maurizio Facheris
    • Institute of Genetic MedicineEuropean Academy Bozen/Bolzano (EURAC)
    • Department of NeurologyCentral Hospital
  • Uwe Gebert
    • Department of RadiologyMarienklinik
  • Günther Schifferle
    • Department of RadiologyCentral Hospital
  • Rudolf Schönhuber
    • Department of NeurologyCentral Hospital
  • Andrew Hicks
    • Institute of Genetic MedicineEuropean Academy Bozen/Bolzano (EURAC)
    • Institute of Genetic MedicineEuropean Academy Bozen/Bolzano (EURAC)
    • Department of NeurologyCentral Hospital
    • Department of NeurologyUniversity of Lübeck
Article

DOI: 10.1007/s12031-009-9287-3

Cite this article as:
Volpato, C.B., De Grandi, A., Buffone, E. et al. J Mol Neurosci (2009) 39: 346. doi:10.1007/s12031-009-9287-3

Abstract

Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37.

Keywords

FamilialBasal gangliaCalcificationLinkageNew locus

Supplementary material

12031_2009_9287_MOESM1_ESM.tif (199 kb)
High resolution (TIFF 198 kb)
12031_2009_9287_MOESM2_ESM.tif (144 kb)
High resolution (TIFF 143 kb)

Copyright information

© Humana Press 2009