caa a22 4500 445807849 CHVBK 20180317145202.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s00415-011-5985-1 doi (NATIONALLICENCE)springer-10.1007/s00415-011-5985-1 Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification [Elektronische Daten] [Vladimir Kostić, Milica Lukić-Ječmenica, Ivana Novaković, Valerija Dobričić, Lela Brajković, Maja Krajinović, Christine Klein, Aleksandra Pavlović] 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 55.4years. 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. Springer-Verlag, 2011 Idiopathic basal ganglia calcification nationallicence Genetic heterogeneity nationallicence Kostić Vladimir Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut Lukić-Ječmenica Milica Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut Novaković Ivana Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut Dobričić Valerija Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut Brajković Lela Institute for Nuclear Medicine, Clinical Center of Serbia, Belgrade, Serbia aut Krajinović Maja University of Montreal, CHU Sainte-Justine, Montreal, Canada aut Klein Christine Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany aut Pavlović Aleksandra Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut Journal of Neurology Springer-Verlag 258/9(2011-09-01), 1637-1642 0340-5354 258:9<1637 2011 258 415 https://doi.org/10.1007/s00415-011-5985-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-5985-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kostić Vladimir Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut NATIONALLICENCE 700 1- Lukić-Ječmenica Milica Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut NATIONALLICENCE 700 1- Novaković Ivana Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut NATIONALLICENCE 700 1- Dobričić Valerija Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut NATIONALLICENCE 700 1- Brajković Lela Institute for Nuclear Medicine, Clinical Center of Serbia, Belgrade, Serbia aut NATIONALLICENCE 700 1- Krajinović Maja University of Montreal, CHU Sainte-Justine, Montreal, Canada aut NATIONALLICENCE 700 1- Klein Christine Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany aut NATIONALLICENCE 700 1- Pavlović Aleksandra Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/9(2011-09-01), 1637-1642 0340-5354 258:9<1637 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer