title: 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.
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. Electronic supplementary material. The online version of this article (doi:10.1007/s12031-009-9287-3) contains supplementary material, which is available to authorized users.
authors.affiliation: Institute of Genetic Medicine, European Academy Bozen/Bolzano (EURAC), 39100 Bolzano, Bozen, Italy.
authors.forename: Claudia Béu
authors.initials: CB
authors.lastname: Volpato
authors.forename: Alessandro
authors.initials: A
authors.lastname: De Grandi
authors.forename: Ebba
authors.initials: E
authors.lastname: Buffone
authors.forename: Maurizio
authors.initials: M
authors.lastname: Facheris
authors.forename: Uwe
authors.initials: U
authors.lastname: Gebert
authors.forename: Günther
authors.initials: G
authors.lastname: Schifferle
authors.forename: Rudolf
authors.initials: R
authors.lastname: Schönhuber
authors.forename: Andrew
authors.initials: A
authors.lastname: Hicks
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001479:Basal Ganglia / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002114:Calcinosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D025063:Chromosome Disorders / Q000235:genetics; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers