title: Heterozygous carriers for Wilson's disease--magnetic spectroscopy changes in the brain.
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.
authors.affiliation: II Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. tarnacka@ipin.edu.pl
authors.forename: Beata
authors.initials: B
authors.lastname: Tarnacka
authors.forename: Wojciech
authors.initials: W
authors.lastname: Szeszkowski
authors.forename: Janine
authors.initials: J
authors.lastname: Buettner
authors.forename: Marek
authors.initials: M
authors.lastname: Gołebiowski
authors.forename: Grazyna
authors.initials: G
authors.lastname: Gromadzka
authors.forename: Anna
authors.initials: A
authors.lastname: Członkowska
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry / Q000235:genetics*; D002570:Ceruloplasmin / Q000378:metabolism; D003300:Copper / Q000097:blood / Q000652:urine; D005260:Female; D005917:Globus Pallidus / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D013788:Thalamus / Q000378:metabolism
chemical_list: D003300:Copper; D002570:Ceruloplasmin
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