Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC)

Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1319-22. doi: 10.1002/ajmg.b.30748.

Abstract

Familial Idiopathic Basal Ganglia Calcification (FIBGC) is a neurodegenerative syndrome that usually follows an autosomal dominant pattern of inheritance. Linkage to only one locus on chromosome 14q (IBCG1) has been described so far. We identified and characterized a large multigenerational Italian family from a population isolate with 14 FIBGC affected members. Linkage analysis excluded the IBCG1 locus, thus demonstrating further locus heterogeneity for this disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Basal Ganglia Diseases / genetics*
  • Calcinosis / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • Family Health
  • Female
  • Genetic Linkage*
  • Humans
  • Inheritance Patterns
  • Italy
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree

Associated data

  • OMIM/213600
  • OMIM/606656