title: Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).
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.
authors: Institute of Genetic Medicine, European Academy, Bolzano, Italy. claudia.volpato@eurac.edu
authors: Claudia Béu
authors: CB
authors: Volpato
authors: Alessandro
authors: A
authors: De Grandi
authors: Ebba
authors: E
authors: Buffone
authors: Irene
authors: I
authors: Pichler
authors: Uwe
authors: U
authors: Gebert
authors: Günther
authors: G
authors: Schifferle
authors: Rudolf
authors: R
authors: Schönhuber
authors: Peter P
authors: PP
authors: Pramstaller
mesh_terms: D000328:Adult; D000368:Aged; D001480:Basal Ganglia Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D040582:Inheritance Patterns; D007558:Italy; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree