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.

MR Unit Department of Diagnostic and Interventional Radiology Institute for Clinical and Experimental Medicine Prague Czech Republic

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Arch Biochem Biophys. 2002 Jan 15;397(2):345-53 PubMed

Hum Mol Genet. 2001 Oct 1;10(20):2181-6 PubMed

Magn Reson Med. 1992 Oct;27(2):368-74 PubMed

Eur Radiol. 2004 Jun;14(6):1000-4 PubMed

Nat Genet. 2001 Aug;28(4):299-300 PubMed

J Magn Reson Imaging. 1993 Jul-Aug;3(4):641-8 PubMed

J Neurosci. 2002 Jul 15;22(14):5848-55 PubMed

Ann Neurol. 1985 Oct;18(4):482-9 PubMed

J Magn Reson Imaging. 1995 Sep-Oct;5(5):554-60 PubMed

Acta Radiol. 2001 Sep;42(5):459-66 PubMed

Clin Neuropathol. 1998 Jan-Feb;17(1):35-40 PubMed

J Comput Assist Tomogr. 1985 May-Jun;9(3):491-3 PubMed

J Neurol Sci. 1995 Dec;134 Suppl:19-26 PubMed

Arch Fr Pediatr. 1993 Jan;50(1):35-7 PubMed

MAGMA. 2003 Nov;16(3):135-43 PubMed

J Neurol Sci. 2003 Mar 15;207(1-2):106-7 PubMed

Neuroradiology. 1993;35(2):119-24 PubMed

J Magn Reson Imaging. 1995 Jul-Aug;5(4):446-50 PubMed

Digitale Bilddiagn. 1984 Jun;4(2):66-8 PubMed

Arch Neurol. 1974 Jan;30(1):70-83 PubMed

Nat Genet. 2001 Aug;28(4):345-9 PubMed

J Magn Reson Imaging. 1993 Jul-Aug;3(4):637-40 PubMed

AJNR Am J Neuroradiol. 2003 Sep;24(8):1690-3 PubMed

Arch Neurol. 1977 Dec;34(12):729-38 PubMed

MAGMA. 2001 Mar;12(1):10-5 PubMed

J Neurochem. 1958 Oct;3(1):41-51 PubMed

Magn Reson Med. 1993 Dec;30(6):672-9 PubMed

MAGMA. 2000 Feb;10(1):6-17 PubMed

N Engl J Med. 2003 Jan 2;348(1):33-40 PubMed

FEBS Lett. 2001 May 4;496(1):1-5 PubMed

Correlation between relaxometry and diffusion tensor imaging in the globus pallidus of Huntington's disease patients

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