title: Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.
abstract: In this study we report clinical and imaging data from a multigenerational Serbian family with idiopathic basal ganglia calcification (IBGC) and exclusion of linkage to chromosome 14q, 2q37 and 8p21.1-q11.23. Fourteen out of 18 family members were personally examined and 11 of them were scanned with computed tomography (CT). CT scans revealed existence of symmetrical calcifications in six family members from three generations (four symptomatic and two asymptomatic). Age at onset of clinical symptoms varied between 22.0 and 55.4 years. The main clinical findings included parkinsonism, severe gait disturbances with freezing of gait, and dyskinesia. Hyperechogenicities identified by transcranial sonography corresponded well to the CT images of hyperintense calcifications in the same structures, whereas brain perfusion single photon emission computed tomography demonstrated predominant hypoperfusion in the frontal cortex and the basal ganglia. After exclusion of linkage to known loci, our pedigree with IBGC further demonstrates locus heterogeneity in this disorder. Analysis of clinically affected individuals supports observation that the clinical features of IBGC appear to be varied both within and between families. The age at onset of the clinical symptoms appeared to be decreasing in two observed transmissions, suggestive of possible genetic anticipation.
authors.affiliation: Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000 Belgrade, Serbia. vladimir.s.kostic@gmail.com
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kostić
authors.forename: Milica
authors.initials: M
authors.lastname: Lukić-Ječmenica
authors.forename: Ivana
authors.initials: I
authors.lastname: Novaković
authors.forename: Valerija
authors.initials: V
authors.lastname: Dobričić
authors.forename: Lela
authors.initials: L
authors.lastname: Brajković
authors.forename: Maja
authors.initials: M
authors.lastname: Krajinović
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Pavlović
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001480:Basal Ganglia Diseases / Q000208:ethnology / Q000235:genetics* / Q000473:pathology*; D002114:Calcinosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D055771:Serbia