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MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients

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Abstract

The influence of iron deposits on T2 values and the content of metabolites in the brain of three patients with DNA proved pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome) was studied. An eye-of-the-tiger sign, a typical MR finding for PKAN, was observed in two patients with the same mutation. A hypointensive lesion in a whole globus pallidus was observed in the third patient with the additional mutation. T2 values in the globus pallidus of the patients were about 40% shorter than in controls (71/48 ms in controls vs. patients), which corresponds to the increase of Fe concentration based on the ferritin basis from 17 mg for controls to 48 mg (100 g wet brain weight) in PKAN patients. 1H MR spectroscopy (MRS) has mainly been used to describe neuronal damage represented by decreased NAA (6.4 mmol vs. 9 mmol) and Cr/PCr (7.0 mmol vs. 9.8 mmol) concentrations in the basal ganglia region of the patient group to controls; MRS is much more case-sensitive and describes individual development of the disease as demonstrated in the difference between the spectra of typical PKAN patients (1, 2), and the patient (3) with atypical PKAN development. Any significant changes of metabolite concentration with the exception glutamine, glutamate and GABA were found in the white matter.

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Acknowledgment

The study was supported by grant projects: Grant Agency of Czech Republic No. 304/03/1189 and CEZ:L17/98:00023001, Czech Republic.

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Authors and Affiliations

  1. MR Unit, Department of Diagnostic and Interventional Radiology, Institute for Clinical and Experimental Medicine, Videnska 1958/9, 140 21, Prague, Czech Republic

    Milan Hájek, Vít Herynek, Antonín Škoch, Filip Jírů & Monika Dezortová

  2. Center for Cell Therapy and Tissue Repair, V Úvalu 84, 150 00, Prague, Czech Republic

    Milan Hájek, Vít Herynek & Monika Dezortová

  3. Department of Children Neurology, Faculty Thomayer Hospital, Videnska 800, 140 00, Prague, Czech Republic

    Miriam Adamovičová

  4. Institute of Biology and Medical Genetics, Second Medical Faculty, Charles University, V Úvalu 84, 150 00, Prague, Czech Republic

    Anna Křepelová

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  1. Milan Hájek
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  2. Miriam Adamovičová
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Correspondence to Milan Hájek.

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Hájek, M., Adamovičová, M., Herynek, V. et al. MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients. Eur Radiol 15, 1060–1068 (2005). https://doi.org/10.1007/s00330-004-2553-4

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  • DOI: https://doi.org/10.1007/s00330-004-2553-4

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