The challenging interpretation of genetic and neuroimaging features in basal ganglia calcification

摘要

Gael N et al. (2012) recently reported a very interesting case report on apparent familial idiopathic basal ganglia calcification (IBGC) subject with psychotic symptoms. Curiously, the proband's parents presented basal ganglia calcifications, despite lacking symptoms suggesting a possible recessive feature [1]. Several other families have been described more recently, and the list grows together with the ramping up of availability of neuroimaging procedures worldwide and with careful screening of patient's relatives [2-7]. Most families reported with IBGC present an autosomal dominant model of inheritance; however, a few kindred have been reported with a recessive pattern. Occasionally, this recessive model of inheritance is not precisely defined but, rather inferred, usually based on the presence of consanguineous parents.