2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family

被引：0
作者：
Claudia Béu Volpato
Alessandro De Grandi
Ebba Buffone
Maurizio Facheris
Uwe Gebert
Günther Schifferle
Rudolf Schönhuber
Andrew Hicks
Peter P. Pramstaller
机构：
[1] European Academy Bozen/Bolzano (EURAC),Institute of Genetic Medicine
[2] Central Hospital,Department of Neurology
[3] Marienklinik,Department of Radiology
[4] Central Hospital,Department of Radiology
[5] University of Lübeck,Department of Neurology
来源：
Journal of Molecular Neuroscience | 2009年 / 39卷
关键词：
Familial; Basal ganglia; Calcification; Linkage; New locus;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：346 / 353
页数：7
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