Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status

Movement Disorders

Volumn 25, Issue 9, 2010, Pages 1253-1261

  Öz, Gülin ^a   Hutter, Diane ^a   Tkáč, Ivan ^a   Clark, H Brent ^a   Gross, Myron D ^a   Jiang, Hong ^b,d   Eberly, Lynn E ^c   Bushara, Khalaf O ^a   Gomez, Christopher M ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Ataxia; Cerebellum; MRS; Neurochemical profile; SCA1

Indexed keywords

ASCORBIC ACID; BIOLOGICAL MARKER; CREATINE; CREATINE PHOSPHATE; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTAMIC ACID; GLUTAMINE; INOSITOL; ISOPROSTANE DERIVATIVE; ISOPROSTANE F2; N ACETYLASPARTIC ACID; N ACETYLASPARTYLGLUTAMIC ACID; UNCLASSIFIED DRUG; ASPARTIC ACID; N-ACETYLASPARTATE; PROTON;

ADULT; ARTICLE; BRAIN METABOLISM; BRAIN STEM; CELL LOSS; CEREBELLUM VERMIS; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CORRELATION ANALYSIS; ENERGY METABOLISM; FEMALE; GLIOSIS; HUMAN; MALE; METABOLITE; NEUROCHEMISTRY; OXIDATIVE STRESS; PONS; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTON NUCLEAR MAGNETIC RESONANCE; RATING SCALE; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; SPINOCEREBELLAR DEGENERATION; SPINOCEREBELLAR DEGENERATION TYPE 1; ANALOGS AND DERIVATIVES; ANALYSIS OF VARIANCE; BRAIN LEVEL; CASE CONTROL STUDY; CEREBROSPINAL FLUID; DIAGNOSTIC USE; HEMISPHERIC DOMINANCE; METABOLISM; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOPHYSIOLOGY; PROCEDURES; SEVERITY OF ILLNESS INDEX; STATISTICS;

ANALYSIS OF VARIANCE; ASPARTIC ACID; BRAIN CHEMISTRY; CASE-CONTROL STUDIES; FEMALE; FUNCTIONAL LATERALITY; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; INOSITOL; ISOPROSTANES; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; PHOSPHOCREATINE; PROTONS; SEVERITY OF ILLNESS INDEX; SPINOCEREBELLAR ATAXIAS; STATISTICS AS TOPIC;

EID: 77955064254     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23067     Document Type: Article

References (41)

1. Klockgether T, Dichgans J. The genetic basis of hereditary ataxia. Prog Brain Res 1997;114:569-576.
2. Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Ann Rev Neurosci 2000;23:217-247.
3. Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
4. Ross CA. Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron 2002;35:819-822.
5. Di Prospero NA, Fischbeck KH. Therapeutics development for triplet repeat expansion diseases. Nat Rev Genet 2005;6:756-765.
6. Xia H, Mao Q, Eliason SL, et al. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med 2004;10:816-820.
7. Zu T, Duvick LA, Kaytor MD, et al. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci 2004;24:8853-8861. (Pubitemid 39362981)
8. Viau M, Boulanger Y. Characterization of ataxias with magnetic resonance imaging and spectroscopy. Parkinsonism Relat Disord 2004;10:335-351. (Pubitemid 38942789)
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. Mascalchi M, Tosetti M, Plasmati R, et al. Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. Ann Neurol 1998;43:244-252.
11. 1H NMR spectra of the rat brain. J Magn Reson 1999;141:104-120.
12. 1H NMR spectroscopy of the human brain at high magnetic fields: metabolite quantification at 4T vs. 7T. Magn Reson Med 2009;62:868-879.
13. Greco A, Minghetti L, Levi G. Isoprostanes, novel markers of oxidative injury, help understanding the pathogenesis of neurodegenerative diseases. Neurochem Res 2000;25:1357-1364.
14. Giuliano P, De Cristofaro T, Affaitati A, et al. DNA damage induced by polyglutamine-expanded proteins. Hum Mol Genet 2003;12:2301-2309.
15. Kim SJ, Kim TS, Hong S, Rhim H, Kim IY, Kang S. Oxidative stimuli affect polyglutamine aggregation and cell death in human mutant ataxin-1-expressing cells. Neurosci Lett 2003;348:21-24. (Pubitemid 37271927)
16. Wallin A, Blennow K, Rosengren LE. Glial fibrillary acidic protein in the cerebrospinal fluid of patients with dementia. Dementia 1996;7:267-272. (Pubitemid 26278687)
17. Norton WT, Aquino DA, Hozumi I, Chiu FC, Brosnan CF. Quantitative aspects of reactive gliosis: a review. Neurochem Res 1992;17:877-885.
18. Schwedhelm E, Maas R, Troost R, Boger RH. Clinical pharmacokinetics of antioxidants and their impact on systemic oxidative stress. Clin Pharmacokinet 2003;42:437-459. (Pubitemid 36649038)
19. Shults CW, Beal MF, Song D, Fontaine D. Pilot trial of high dosages of coenzyme Q10 in patients with Parkinson's disease. Exp Neurol 2004;188:491-494. (Pubitemid 38891609)
20. 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.
21. Öz G, Tkáč I, Charnas LR, et al. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients. Neurology 2005;64:434-441.
22. 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.
23. Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672-679.
24. Govindaraju V, Young K, Maudsley AA. Proton NMR chemical shifts and coupling constants for brain metabolites. NMR Biomed 2000;13:129-153. (Pubitemid 30414704)
25. Tkáč I. Refinement of simulated basis set for LCModel analysis. Proceedings of the 16th Scientific Meeting of the International Society for Magnetic Resonance in Medicine. Toronto, Canada: 2008. p 1624.
26. Siegel G. J., editor. Basic neurochemistry: molecular, cellular and medical aspects, sixth ed. Philadelphia: Lippincott-Raven Publishers; 1999.
27. Kruse T, Reiber H, Neuhoff V. Amino acid transport across the human blood-CSF barrier. An evaluation graph for amino acid concentrations in cerebrospinal fluid. J Neurol Sci 1985;70:129-138. (Pubitemid 15021640)
28. Provencher SW. LCModel & LCMgui User's Manual. 2001.
29. 2-isoprostanes in biological fluids and tissues as measure of oxidant stress. Methods Enzymol 1999;300:3-12.
30. 2-isoprostanes and coronary artery calcification: the CARDIA Study. Clin Chem 2005;51:125-131.
31. Clark JB. N-acetyl aspartate: a marker for neuronal loss or mitochondrial dysfunction. Dev Neurosci 1998;20:271-276.
32. Storm-Mathisen J, Danbolt NC, Rothe F, et al. Ultrastructural immunocytochemical observations on the localization, metabolism and transport of glutamate in normal and ischemic brain tissue. Prog Brain Res 1992;94:225-241.
33. Pouwels PJ, Kruse B, Korenke GC, Mao X, Hanefeld FA, Frahm J. Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy. Neuropediatrics 1998;29:254-264. (Pubitemid 28468220)
34. 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. (Pubitemid 24258162)
35. Vrenken H, Barkhof F, Uitdehaag BM, Castelijns JA, Polman CH, Pouwels PJ. MR spectroscopic evidence for glial increase but not for neuro-axonal damage in MS normal-appearing white matter. Magn Reson Med 2005;53:256-266.
36. 1H NMR spectroscopy in common dementias. Neurology 2004;63:1393-1398.
37. Clark HB, Orr HT. Spinocerebellar ataxia type 1 - modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice. J Neuropathol Exp Neurol 2000;59:265-270.
38. 1H-NMR spectroscopy: a single voxel study of the cerebellar vermis in patients with degenerative ataxias. J Magn Reson Imaging 2009;30:11-17.
39. Ottersen OP, Storm-Mathisen J. Glutamate- and GABA-containing neurons in the mouse and rat brain, as demonstrated with a new immunocytochemical technique. J Comp Neurol 1984;229:374-392. (Pubitemid 15201536)
40. Wüllner U, Reimold M, Abele M, et al. Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6. Arch Neurol 2005;62:1280-1285.
41. 1H NMR spectroscopy. J Neurochem 2007;100:1397-1406.