Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).
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.
Volpato
Claudia Béu
CB
Institute of Genetic Medicine, European Academy, Bolzano, Italy. claudia.volpato@eurac.edu
De Grandi
Alessandro
A
Buffone
Ebba
E
Pichler
Irene
I
Gebert
Uwe
U
Schifferle
Günther
G
Schönhuber
Rudolf
R
Pramstaller
Peter P
PP
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