Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease

Brain - Tập 131 Số 11 - Trang 2851-2859 - 2008
Valerio Leoni1, Caterina Mariotti2, Sarah J. Tabrizi2, Marta Valenza2, Edward J. Wild2, Susie M.D. Henley2, Nicola Z. Hobbs2, Maria Luisa Mandelli2, Marina Grisoli2, Ingemar Björkhem2, Elena Cattaneo2, Stefano Di Donato2
1Unit Biochemistry and Genetics, Fondazione-IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
2Karolinska University Hospital, Stockholm, Sweden

Tóm tắt

Từ khóa


Tài liệu tham khảo

Aylward, 2007, Change in MRI striatal volumes as a biomarker in preclinical Huntington disease, Brain Res Bull, 72, 152, 10.1016/j.brainresbull.2006.10.028

Aylward, 2004, Onset and rate of striatal atrophy in preclinical Huntington's disease, Neurology, 63, 66, 10.1212/01.WNL.0000132965.14653.D1

Björkhem, 2006, Crossing the barrier: oxysterols as cholesterol transporters and metabolic modulators in the brain, J Intern Med, 260, 493, 10.1111/j.1365-2796.2006.01725.x

Björkhem, 2006, Oxysterols and Alzheimer's disease, Acta Neurol Scand Suppl, 185, 43, 10.1111/j.1600-0404.2006.00684.x

Björkhem, 2004, Brain cholesterol: long secret life behind a barrier, Arterioscl Thromb Vasc Biol, 24, 806, 10.1161/01.ATV.0000120374.59826.1b

Cattaneo, 2005, Normal huntingtin function: an alternative approach to Huntington's disease, Nat Rev Neurosci, 6, 919, 10.1038/nrn1806

Cohn, 1988, Lipoprotein cholesterol concentrations in the plasma of human subjects measured in the fed and fasted states, Clin Chem, 34, 2456, 10.1093/clinchem/34.12.2456

Dalrymple, 2007, Proteomic profiling of plasma in Huntington's disease reveals neuroinflammatory activation and biomarker candidates, J Proteom Res, 6, 2833, 10.1021/pr0700753

Dietschy, 2004, Brain lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal, J Lipid Res, 45, 1375, 10.1194/jlr.R400004-JLR200

Dzeletovic, 1995, Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry, Anal Biochem, 225, 73, 10.1006/abio.1995.1110

Gellera, 1996, Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene, Am J Hum Genet, 59, 475

Graham, 2006, Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin, Cell, 125, 1179, 10.1016/j.cell.2006.04.026

Huntington's Disease Collaborative Research Group, 1993, A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes, Cell, 72, 971, 10.1016/0092-8674(93)90585-E

Huntington Study, 1996, The unified Huntington's disease rating scale: reliability and consistency, Mov Dis, 11, 136, 10.1002/mds.870110204

International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research group on Huntington's Chorea, 1994, Guidelines for the molecular genetics predictive test in Huntington's disease, Neurology, 44, 1533, 10.1212/WNL.44.8.1533

Langbehn, 2004, International Huntington's disease collaborative group. 2004. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length, Clin Genet, 66, 81

Leoni, 2002, Changes in human plasma levels of 24S-hydroxycholesterol during progression of multiple sclerosis, Neurosci Lett, 331, 163, 10.1016/S0304-3940(02)00887-X

Lund, 1999, cDNA cloning of cholesterol 24-hydroxylase, a mediator of the cholesterol homeostasis in the brain, Proc Natl Acad Sci USA, 96, 7238, 10.1073/pnas.96.13.7238

Lund, 2003, Knockout of the cholesterol-24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover, J Biol Chem, 278, 22980, 10.1074/jbc.M303415200

Lütjohann, 1996, Cholesterol homeostasis in human brain: evidence for an age-dependent flux of 24S-hydroxycholesterol from the brain into the circulation, Proc Natl Acad Sci USA, 93, 9799, 10.1073/pnas.93.18.9799

Marder, 2000, Rate of functional decline in Huntington's disease, Neurology, 54, 452, 10.1212/WNL.54.2.452

Pfriger, 2003, Cholesterol homeostasis and function in neurons of the central nervous system, Cell Mol Life Sci, 60, 1158, 10.1007/s00018-003-3018-7

Reading, 2004, Functional brain changes in presymptomatic Huntington's disease, Ann Neurol, 55, 879, 10.1002/ana.20121

Rosas, 2005, Regional cortical thinning in preclinical Huntington disease and its relationships to cognition, Neurology, 65, 745, 10.1212/01.wnl.0000174432.87383.87

Rosas, 2003, Evidence for a more widespread cerebral pathology in early HD, Neurology, 60, 1615, 10.1212/01.WNL.0000065888.88988.6E

Taroni, 2004, Pathways to motor incoordination: the inherited ataxias, Nat Rev Neurosci, 5, 641, 10.1038/nrn1474

Teunissen, 2005, Biological markers in CSF and blood for axonal degeneration in multiple sclerosis, Lancet Neurol, 4, 32, 10.1016/S1474-4422(04)00964-0

Tzourio-Mazoyer, 2002, Automated anatomical labelling of activations in spm using a macroscopic anatomical parcellation of the MNI MRI single subject brain, NeuroImage, 15, 273, 10.1006/nimg.2001.0978

Valenza, 2007, Cholesterol biosynthetic pathway is impaired in YAC128 mice and is related to huntingtin expression, Hum Mol Genet, 16, 2187, 10.1093/hmg/ddm170

Valenza, 2007, Progressive dysfunction of the cholesterol biosynthesis pathway in the R6/2 mouse model of Huntington's disease, Neurobiol Dis, 28, 133, 10.1016/j.nbd.2007.07.004

Valenza, 2005, Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease, J Neurosci, 25, 9932, 10.1523/JNEUROSCI.3355-05.2005

Vonsattel, 1998, Huntington disease, J Neuropath Exp Neurol, 57, 369, 10.1097/00005072-199805000-00001

Walker, 2007, Huntington's disease, Lancet, 369, 218, 10.1016/S0140-6736(07)60111-1

Whitwell, 2001, Normalization of cerebral volumes by use of intracranial volume: implications for longitudinal quantitative MR imaging, Am J Neuroradiol, 22, 1483