Heterozygous carriers for Wilson's disease--magnetic spectroscopy changes in the brain.
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.
Tarnacka
Beata
B
II Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. tarnacka@ipin.edu.pl
Szeszkowski
Wojciech
W
Buettner
Janine
J
Gołebiowski
Marek
M
Gromadzka
Grazyna
G
Członkowska
Anna
A
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
D003300:Copper; D002570:Ceruloplasmin
Ann N Y Acad Sci. 1987;508:333-48
3326459
J Neurochem. 1988 Sep;51(3):892-902
2900879
Clin Genet. 2005 Dec;68(6):524-32
16283883
Proc Natl Acad Sci U S A. 2003 Sep 16;100(19):11065-9
12920183
Biometals. 2007 Oct;20(5):751-7
17136311
Med Hypotheses. 2001 Feb;56(2):171-3
11425282
Arch Neurol. 2006 Aug;63(8):1085-8
16908733
Mol Genet Metab. 2005 Sep-Oct;86(1-2):277-85
15967699
Pediatr Radiol. 1993;23(2):157
8516046
Gastroenterology. 2007 Apr;132(4):1294-8
17433323
Clin Genet. 1984 May;25(5):381-415
6373070