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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bottomley P (1986) Spatial localization in NMR spectroscopy in vivo. Ann NY Acad Sci 508:333–348
Cheach D, Deal Y, Wright P, Buck N, Chow C, Mercer J, Allen K (2007) Heterozygous tx mice have an increased sensitivity to copper loading: implications for Wilson’s disease carriers. Biometals 20:751–760
Danielsen E, Ross B (1999) Magnetic resonance spectroscopy diagnosis of neurological diseases. Marcel Dekker, New York
Erecinska M, Zaleska M, Nissim M, Nelson D, Dagani F, Yudkoff M (1988) Glucose and synaptosomal glutamate metabolizm: studies with [15N] glutamate. J Neurochem 51:892–902
Ferenci P, Członkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt H, Stremmel W (2007) Late-onset Wilson’s disease. Gastroenterology 132:1294–1298
Gromadzka G, Schmidt H, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A (2006) Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson’s disease. Clin Genet 68:524–532
Hoogenraad T (1997) Wilson’s disease. Saunders, London
Johnson S (2001) Is Parkinson’s disease the heterozygote form of Wilson’s disease: PD=1/2 WD? Med Hypotheses 56:171–173
Morris M, Evans D, Tangoney C, Bienias J, Schneider J, Wilson R, Scherr P (2006) Dietary copper and high saturated and trans fat intakes associated with cognitive decline. Arch Neurol 63:1085–1088
Sender R (1993) Wilson’s disease: MRI demonstration of cavitations in the basal ganglia and thalami. Pediatr Radiol 23:157
Sparks D, Scheurs B (2003) Trace amounts of copper in water induce beta-amyloid plaques and learning deficits in a rabbit model of Alzheimer’s disease. Proc Natl Acad Sci U S A 100:11065–11069
Vogel F (1984) Clinical consequences of heterozygosity for autosomal-recessive diseases. Clin Genet 25:381–415
Vrabelova S, Letocha O, Borsky M, Kozak L (2005) Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 86:277–285
Acknowledgements
This work was supported by a grant from the Polish Ministry of Education and Science (3P05B/119/23).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Tarnacka, B., Szeszkowski, W., Buettner, J. et al. Heterozygous carriers for Wilson’s disease—magnetic spectroscopy changes in the brain. Metab Brain Dis 24, 463–468 (2009). https://doi.org/10.1007/s11011-009-9145-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11011-009-9145-6