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01-09-2009 | Original Paper

Heterozygous carriers for Wilson’s disease—magnetic spectroscopy changes in the brain

Authors: Beata Tarnacka, Wojciech Szeszkowski, Janine Buettner, Marek Gołębiowski, Grażyna Gromadzka, Anna Członkowska

Published in: Metabolic Brain Disease | Issue 3/2009

Abstract

Wilson’s disease (WD) is an autosomal recessive disorder and the WD heterozygote carriers (Hzc) should not exhibit symptoms of the disease. The aim of this study was to assess 12 WD Hzc by brain Proton MR Spectroscopy. In three cases, the levels of caeruloplasmin, and in one case, serum copper, were below our normal range. In two Hzc the aspartate and alanine aminotransferase levels in the blood were slightly increased, however, no ultrasonographic liver changes were detected. The brain metabolite analysis showed a statistically significant higher mean ratio of Glx/Cr and Lip/Cr in MRS in Hzc in both the pallidum and thalami compared to control subjects. Our results suggest that WD Hzc may accumulate free copper in the basal ganglia.

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Title: Heterozygous carriers for Wilson’s disease—magnetic spectroscopy changes in the brain
Authors: Beata Tarnacka
Wojciech Szeszkowski
Janine Buettner
Marek Gołębiowski
Grażyna Gromadzka
Anna Członkowska
Publication date: 01-09-2009
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 3/2009
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-009-9145-6

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Heterozygous carriers for Wilson’s disease—magnetic spectroscopy changes in the brain

Abstract

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Abstract

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