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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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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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Acknowledgments

This study was supported by governmental, i.e. by a grant from the Ministry of Science and Technology (MST), Republic of Serbia (projects no. 175090). CK funded by the Volkswagen Foundation and the Hermann and Lilly Schilling Foundation. VSK had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Herein the authors claim that this study was approved by the Ethical Committee of the Medical School University of Belgrade and have been thereafter performed in accordance with the ethical standards laid down by the Declaration of Helsinki.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Institute of Neurology CCS, School of Medicine, University of Belgrade, Ul Dr Subotića 6, 11000, Belgrade, Serbia

    Vladimir S. Kostić, Milica Lukić-Ječmenica, Ivana Novaković, Valerija Dobričić & Aleksandra Pavlović

  2. Institute for Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia

    Ivana Novaković

  3. Institute for Nuclear Medicine, Clinical Center of Serbia, Belgrade, Serbia

    Lela Brajković

  4. University of Montreal, CHU Sainte-Justine, Montreal, Canada

    Maja Krajinović

  5. Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany

    Christine Klein

Authors
  1. Vladimir S. Kostić
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  2. Milica Lukić-Ječmenica
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  3. Ivana Novaković
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  4. Valerija Dobričić
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  5. Lela Brajković
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  6. Maja Krajinović
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  7. Christine Klein
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  8. Aleksandra Pavlović
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Correspondence to Vladimir S. Kostić.

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Kostić, V.S., Lukić-Ječmenica, M., Novaković, I. et al. Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification. J Neurol 258, 1637–1642 (2011). https://doi.org/10.1007/s00415-011-5985-1

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  • DOI: https://doi.org/10.1007/s00415-011-5985-1

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