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

作者：Volpato Claudia Beu; De Grandi Alessandro; Buffone Ebba; Facheris Maurizio; Gebert Uwe; Schifferle Guenther; Schoenhuber Rudolf; Hicks Andrew; Pramstaller Peter P^*

来源：Journal of Molecular Neuroscience, 2009, 39(3): 346-353.

DOI：10.1007/s12031-009-9287-3

• Familial
• Basal ganglia
• Calcification
• Linkage
• New locus

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.

• 出版日期2009-11
• 单位河北医科大学