In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7

Movement Disorders

Volumn 30, Issue 5, 2015, Pages 662-670

  Adanyeguh, Isaac M ^a   Henry, Pierre Gilles ^b   Nguyen, Tra M ^a   Rinaldi, Daisy ^a   Jauffret, Celine ^a   Valabregue, Romain ^c   Emir, Uzay E ^b   Deelchand, Dinesh K ^b   Brice, Alexis ^a   Eberly, Lynn E ^d   Öz, Gülin ^b   Durr, Alexandra ^a,e   Mochel, Fanny ^a,e  

^a INSERM   (France)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^d UNIVERSITY OF MINNESOTA   (United States)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Biomarker; Movement disorders; Neurochemical profile; NMR spectroscopy; Spinocerebellar ataxia

Indexed keywords

ATAXIN 1; ATAXIN 2; ATAXIN 3; ATAXIN 7; INOSITOL; N ACETYLASPARTIC ACID; POLYGLUTAMINE; UNCLASSIFIED DRUG; ASPARTIC ACID; ATAXIN; GLUTAMIC ACID; N-ACETYLASPARTATE; PROTON;

ADULT; ARTICLE; CAG REPEAT; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONTROLLED STUDY; DISEASE DURATION; DISEASE SEVERITY; FEMALE; HUMAN; HUNTINGTON CHOREA; IN VIVO STUDY; MALE; MIDDLE AGED; MOTOR DYSFUNCTION; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; QUALITY CONTROL; SPINOCEREBELLAR DEGENERATION; ANALOGS AND DERIVATIVES; CLASSIFICATION; COHORT ANALYSIS; GENETICS; MACHADO JOSEPH DISEASE; METABOLISM; STATISTICS;

ADULT; ASPARTIC ACID; ATAXINS; COHORT STUDIES; FEMALE; GLUTAMIC ACID; HUMANS; MACHADO-JOSEPH DISEASE; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; PRINCIPAL COMPONENT ANALYSIS; PROTONS; SPINOCEREBELLAR ATAXIAS; STATISTICS AS TOPIC;

EID: 84927104353     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26181     Document Type: Article

References (41)

1. Yamada M, Sato T, Tsuji S, Takahashi H. CAG repeat disorder models and human neuropathology: similarities and differences. Acta Neuropathol 2008;115:71-86.
2. Jacobi H, Reetz K, du Montcel ST, et al. Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol 2013;12:650-658.
3. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010;9:885-894.
4. Schmitz-Hübsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66:1717-1720.
5. Saute JA, Donis KC, Serrano-Munuera C, et al. Ataxia rating scales: psychometric profiles, natural history and their application in clinical trials. Cerebellum 2012;11:488-504.
6. Underwood BR, Rubinsztein DC. Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies. Cerebellum 2008;7:215-221.
7. Hall H, Cuellar-Baena S, Dahlberg C, In't Zandt R, Denisov V, Kirik D. Magnetic resonance spectroscopic methods for the assessment of metabolic functions in the diseased brain. Curr Top Behav Neurosci 2012;11:169-198.
8. Öz G, Nelson CD, Koski DM, et al. Noninvasive detection of presymptomatic and progressive neurodegeneration in a mouse model of spinocerebellar ataxia type 1. J Neurosci 2010;30:3831-3838.
9. Guerrini L, Lolli F, Ginestroni A, et al. Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2: a quantitative volumetric, diffusion and proton spectroscopy MR study. Brain 2004;127:1785-1795.
10. Lirng JF, Wang PS, Chen HC, Soong BW, Guo WY, Wu HM, Chang CY. Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. PLoS One 2012;7:e47925.
11. Mascalchi M, Cosottini M, Lolli F, et al. Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia. Radiology 2002;223:371-378.
12. Wang PS, Chen HC, Wu HM, Lirng JF, Wu YT, Soong BW. Association between proton magnetic resonance spectroscopy measurements and CAG repeat number in patients with spinocerebellar ataxias 2, 3, or 6. PLoS One 2012;7:e47479.
13. Ferguson KJ, MacLullich AMJ, Marshall I, Deary IJ, Starr JM, Seckl JR, Wardlaw JM. Magnetic resonance spectroscopy and cognitive function in healthy elderly men. Brain 2002;125:2743-2749.
14. Henriksen O. In vivo quantitation of metabolite concentrations in the brain by means of proton MRS. NMR Biomed 1995;8:139-148.
15. Öz G, Hutter D, Tkáč I, et al. Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov Disord 2010;25:1253-1261.
16. Öz G, Iltis I, Hutter D, Thomas W, Bushara KO, Gomez CM. Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. Cerebellum 2011;10:208-217.
17. Öz G, Tkáč I. Short-echo, single-shot, full-intensity proton magnetic resonance spectroscopy for neurochemical profiling at 4 T: Validation in the cerebellum and brainstem. Magn Reson Med 2011;65:901-910.
18. Boer VO, van Lier AL, Hoogduin JM, Wijnen JP, Luijten PR, Klomp DW. 7-T 1H MRS with adiabatic refocusing at short TE using radiofrequency focusing with a dual-channel volume transmit coil. NMR Biomed 2011;24:1038-1046.
19. Gruetter R, Tkac I. Field mapping without reference scan using asymmetric echo-planar techniques. Magn Reson Med 2000;43:319-323.
20. Ernst T, Kreis R, Ross BD. Absolute quantitation of water and metabolites in the human brain. I. Compartments and water. J Magn Reson 1993;102:1-8.
21. Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672-679.
22. Deelchand DK, Adanyeguh IM, Emir UE, et al. Two-site reproducibility of cerebellar and brainstem neurochemical profiles with short-echo, single-voxel MRS at 3T. Magn Reson Med 2014. DOI: 10.1002/mrm.25295.
23. Randall L. Chemical topography of the brain. J Biol Chem 1938;124:481-488.
24. Siegel GJ, ed. Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th ed. Philadelphia: Lippincott-Raven Publishers; 1999.
25. Oz G, Alger JR, Barker PB, et al. Clinical proton MR spectroscopy in central nervous system disorders. Radiology 2014;270:658-679.
26. Provencher S. LCModel and LCMgui User's Manual. 2014. [Accessed 2014 December 20]. Available from: http://s-provencher.com/pub/LCModel/manual/manual.pdf.
27. Holm S. A simple sequentially rejective multiple test procedure. Scand J Statist 1979;6:65-70.
28. Viau M, Boulanger Y. Characterization of ataxias with magnetic resonance imaging and spectroscopy. Parkinsonism Relat Disord 2004;10:335-351.
29. Reetz K, Costa AS, Mirzazade S, et al. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain 2013;136:905-917.
30. Maddock RJ, Buonocore MH. MR spectroscopic studies of the brain in psychiatric disorders. Curr Top Behav Neurosci 2012;11:199-251.
31. Brand A, Richter-Landsberg C, Leibfritz D. Multinuclear NMR studies on the energy metabolism of glial and neuronal cells. Dev Neurosci 1993;15:289-298.
32. Allaman I, Bélanger M, Magistretti PJ. Astrocyte-neuron metabolic relationships: for better and for worse. Trends Neurosci 2011;34:76-87.
33. Guerrini L, Belli G, Mazzoni L, et al. Impact of cerebrospinal fluid contamination on brain metabolites evaluation with 1 H-MR Spectroscopy: a single voxel study of the cerebellar vermis in patients with degenerative ataxias. J Magn Reson Imaging 2009;30:11-17.
34. Brewer GJ, Wallimann TW. Protective effect of the energy precursor creatine against toxicity of glutamate and beta-amyloid in rat hippocampal neurons. J Neurochem 2000;74:1968-1978.
35. Genius J, Geiger J, Bender A, Moller HJ, Klopstock T, Rujescu D. Creatine protects against excitoxicity in an in vitro model of neurodegeneration. PLoS One. 2012;7:e30554.
36. Meyer LE, Machado LB, Santiago APSA, et al. Mitochondrial creatine kinase activity prevents reactive oxygen species generation: antioxidant role of mitochondrial kinase-dependent ADP re-cycling activity. J Biol Chem 2006;281:37361-37371.
37. Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005;6:743-755.
38. Mochel F, Durant B, Meng X, et al. Early alterations of brain cellular energy homeostasis in Huntington disease models. J Biol Chem 2012;287:1361-1370.
39. Zacharoff L, Tkáč I, Song Q, et al. Cortical metabolites as biomarkers in the R6/2 model of Huntington's disease. J Cereb Blood Flow Metab 2012;32:502-514.
40. Tkáč I, Henry PG, Zacharoff L, et al. Homeostatic adaptations in brain energy metabolism in mouse models of Huntington disease. J Cereb Blood Flow Metab 2012;32:1977-1988.
41. Mochel F, N'Guyen TM, Deelchand D, et al. Abnormal response to cortical activation in early stages of Huntington disease. Mov Disord 2012;27:907-910.