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Transcranial sonography in pantothenate kinase-associated neurodegeneration

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An Erratum to this article was published on 11 January 2012

Abstract

After it was reported that increased tissue iron concentrations were associated with increased echogenicity of the substantia nigra (SN) obtained with transcranial sonography (TCS) in animal and postmortem studies, our goal was to use this method in a disorder characterized with iron accumulation in human brain tissue. Therefore, magnetic resonance imaging (MRI) and TCS were conducted in 5 unrelated patients with pantothenate kinase-associated neurodegeneration (PKAN), caused by PANK2 mutations. All patients had an eye of the tiger sign. Hypointense lesions on the T2-weighted MRI images were restricted to the globus pallidus (GP) and SN. TCS also revealed bilateral hyperechogenicity restricted to the LN and SN, with normal DTV values. Both TCS and MRI studies in PKAN patients are in accordance with the pathological findings that accumulation of iron, even in advanced cases, is restricted to the GP and SN, suggesting selective involvement of these structures.

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Acknowledgments

This study was supported by a grant from the Ministry of Science and Technology, Republic of Serbia (project no. 175090). 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.

Conflict of interest

The authors declare that they have no conflicts of interest.

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Authors and Affiliations

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

    Vladimir S. Kostić, Marina Svetel, Milija Mijajlović, Aleksandra Pavlović & Milica Ječmenica-Lukić

  2. School of Medicine, MRI Center, University of Novi Sad, Novi Sad, Serbia

    Dušan Kozić

Authors
  1. Vladimir S. Kostić
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  2. Marina Svetel
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  3. Milija Mijajlović
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  4. Aleksandra Pavlović
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  5. Milica Ječmenica-Lukić
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  6. Dušan Kozić
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Correspondence to Vladimir S. Kostić.

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Kostić, V.S., Svetel, M., Mijajlović, M. et al. Transcranial sonography in pantothenate kinase-associated neurodegeneration. J Neurol 259, 959–964 (2012). https://doi.org/10.1007/s00415-011-6294-4

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  • DOI: https://doi.org/10.1007/s00415-011-6294-4

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