Abstract

The core features of idiopathic basal ganglia calcifications (IBGC) or Fahr's disease are dystonia, parkinsonism and neurobehavioral abnormalities that are associated with calcifications visible on CT scan of the brain. Familial IBGC shows mostly an autosomal dominant mode of inheritance. The investigators have mapped a locus on chr.14q in one large multiplex family. In two other families linkage to chr.14 has been excluded, demonstrating genetic heterogeneity. The minimal critical region (MCR) on chr.14 is 15 or probably 10cM. The investigators propose to narrow down the MCR by collecting additional family members of the original pedigree as well as other families. Physical mapping and candidate screening for mutations will be pursued as the region is narrowed to identify the IBGC gene. A genome scan will be performed in families who are not linked to the chr.14 locus.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
1R01NS040752-01
Application #
6227596
Study Section
Special Emphasis Panel (ZRG1-BDCN-3 (01))
Program Officer
Gwinn, Katrina
Project Start
2001-02-05
Project End
2005-01-31
Budget Start
2001-02-05
Budget End
2002-01-31
Support Year
1
Fiscal Year
2001
Total Cost
$328,350
Indirect Cost

  Institution

Name
University of California Los Angeles
Department
Neurology
Type
Schools of Medicine
DUNS #
119132785
City
Los Angeles
State
CA
Country
United States
Zip Code
90095

  Publications

Ramos, Eliana Marisa; Carecchio, Miryam; Lemos, Roberta et al. (2018) Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet 26:1462-1477
Legati, Andrea; Giovannini, Donatella; Nicolas, Gaël et al. (2015) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet 47:579-81
Nicolas, Gaël; Charbonnier, Camille; de Lemos, Roberta Rodrigues et al. (2015) Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet 168:586-94
Hsu, Sandy Chan; Sears, Renee L; Lemos, Roberta R et al. (2013) Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 14:11-22
Gompf, Heinrich S; Allen, Charles N (2004) GABAergic synapses of the suprachiasmatic nucleus exhibit a diurnal rhythm of short-term synaptic plasticity. Eur J Neurosci 19:2791-8
Oliveira, J R M; Spiteri, E; Sobrido, M J et al. (2004) Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology 63:2165-7
Schwarzbraun, Thomas; Vincent, John B; Schumacher, Axel et al. (2004) Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Genomics 84:577-86