Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification |
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Authors: | Vladimir S Kostić Milica Lukić-Ječmenica Ivana Novaković Valerija Dobričić Lela Brajković Maja Krajinović Christine Klein Aleksandra Pavlović |
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Institution: | (1) Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000 Belgrade, Serbia;(2) Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia;(3) Institute for Nuclear Medicine, Clinical Center of Serbia, Belgrade, Serbia;(4) University of Montreal, CHU Sainte-Justine, Montreal, Canada;(5) Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany |
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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. |
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