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Disease Markers
Volume 2015 (2015), Article ID 413098, 6 pages
http://dx.doi.org/10.1155/2015/413098
Research Article

Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study

1Department of Pediatrics, Monroe Carell Jr. Children’s Hospital at Vanderbilt, 2200 Children’s Way, Suite 2404, Nashville, TN 37232, USA
2Center for Magnetic Resonance Research, University of Minnesota, 2021 6th Street SE, Minneapolis, MN 55455, USA
3Department of Neurology, AMB S237, MC 2030, The University of Chicago, 5841 S. Maryland, Chicago, IL 60637, USA

Received 5 January 2015; Revised 2 July 2015; Accepted 2 July 2015

Academic Editor: Robert Pichler

Copyright © 2015 Ashley M. Brouillette et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. T. Dunckley, K. D. Coon, and D. A. Stephan, “Discovery and development of biomarkers of neurological disease,” Drug Discovery Today, vol. 10, no. 5, pp. 326–334, 2005. View at Publisher · View at Google Scholar · View at Scopus
  2. H. Tumani, C. Teunissen, S. Süssmuth, M. Otto, A. C. Ludolph, and J. Brettschneider, “Cerebrospinal fluid biomarkers of neurodegeneration in chronic neurological diseases,” Expert Review of Molecular Diagnostics, vol. 8, no. 4, pp. 479–494, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Banfi and H. Y. Zoghbi, “Molecular genetics of hereditary ataxias,” Bailliere's Clinical Neurology, vol. 3, no. 2, pp. 281–295, 1994. View at Google Scholar · View at Scopus
  4. T. Klockgether and J. Dichgans, “The genetic basis of hereditary ataxia,” Progress in Brain Research, vol. 114, pp. 569–576, 1997. View at Publisher · View at Google Scholar · View at Scopus
  5. A. H. Koeppen, “Friedreich's ataxia: pathology, pathogenesis, and molecular genetics,” Journal of the Neurological Sciences, vol. 303, no. 1-2, pp. 1–12, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. M. Manto and D. Marmolino, “Cerebellar disorders-at the crossroad of molecular pathways and diagnosis,” Cerebellum, vol. 8, no. 4, pp. 417–422, 2009. View at Publisher · View at Google Scholar · View at Scopus
  7. M. Pandolfo, “Molecular pathogenesis of friedreich ataxia,” Archives of Neurology, vol. 56, no. 10, pp. 1201–1208, 1999. View at Publisher · View at Google Scholar · View at Scopus
  8. T. Schmitz-Hübsch and T. Klockgether, “An update on inherited ataxias,” Current Neurology and Neuroscience Reports, vol. 8, no. 4, pp. 310–319, 2008. View at Publisher · View at Google Scholar · View at Scopus
  9. B. W. Konigsmark and L. P. Weiner, “The olivopontocerebellar atrophies: a review,” Medicine, vol. 49, no. 3, pp. 227–241, 1970. View at Google Scholar · View at Scopus
  10. S. Gilman, P. A. Low, N. Quinn et al., “Consensus statement on the diagnosis of multiple system atrophy,” Journal of the Neurological Sciences, vol. 163, no. 1, pp. 94–98, 1999. View at Publisher · View at Google Scholar · View at Scopus
  11. S. Gilman, G. K. Wenning, P. A. Low et al., “Second consensus statement on the diagnosis of multiple system atrophy,” Neurology, vol. 71, no. 9, pp. 670–676, 2008. View at Publisher · View at Google Scholar · View at Scopus
  12. T. Tokuda, S. A. Salem, D. Allsop et al., “Decreased alpha-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease,” Biochemical and Biophysical Research Communications, vol. 349, no. 1, pp. 162–166, 2006. View at Publisher · View at Google Scholar · View at Scopus
  13. D. J. Burn and E. Jaros, “Multiple system atrophy: cellular and molecular pathology,” Journal of Clinical Pathology—Molecular Pathology, vol. 54, no. 6, pp. 419–426, 2001. View at Google Scholar · View at Scopus
  14. B. Laurens, R. Constantinescu, R. Freeman et al., “Fluid biomarkers in multiple system atrophy: a review of the MSA Biomarker Initiative,” Neurobiology of Disease, vol. 80, pp. 29–41, 2015. View at Publisher · View at Google Scholar
  15. K. Blennow and H. Hampel, “CSF markers for incipient Alzheimer's disease,” The Lancet Neurology, vol. 2, no. 10, pp. 605–613, 2003. View at Publisher · View at Google Scholar · View at Scopus
  16. A. M. Fagan, C. M. Roe, C. Xiong, M. A. Mintun, J. C. Morris, and D. M. Holtzman, “Cerebrospinal fluid tau/β-amyloid42 ratio as a prediction of cognitive decline in nondemented older adults,” Archives of Neurology, vol. 64, no. 3, pp. 343–349, 2007. View at Publisher · View at Google Scholar · View at Scopus
  17. O. Hansson, H. Zetterberg, P. Buchhave, E. Londos, K. Blennow, and L. Minthon, “Association between CSF biomarkers and incipient Alzheimer's disease in patients with mild cognitive impairment: a follow-up study,” The Lancet Neurology, vol. 5, no. 3, pp. 228–234, 2006. View at Publisher · View at Google Scholar · View at Scopus
  18. C. M. Roe, A. M. Fagan, M. M. Williams et al., “Improving CSF biomarker accuracy in predicting prevalent and incident Alzheimer disease,” Neurology, vol. 76, no. 6, pp. 501–510, 2011. View at Publisher · View at Google Scholar · View at Scopus
  19. M. Waragai, J. Wei, M. Fujita et al., “Increased level of DJ-1 in the cerebrospinal fluids of sporadic Parkinson's disease,” Biochemical and Biophysical Research Communications, vol. 345, no. 3, pp. 967–972, 2006. View at Publisher · View at Google Scholar · View at Scopus
  20. K. Shibuki, H. Gomi, L. Chen et al., “Deficient cerebellar long-term depression, impaired eyeblink conditioning, and normal motor coordination in GFAP mutant mice,” Neuron, vol. 16, no. 3, pp. 587–599, 1996. View at Publisher · View at Google Scholar · View at Scopus
  21. C. Malmeström, S. Haghighi, L. Rosengren, O. Andersen, and J. Lycke, “Neurofilament light protein and glial fibrillary acidic protein as biological markers in MS,” Neurology, vol. 61, no. 12, pp. 1720–1725, 2003. View at Publisher · View at Google Scholar · View at Scopus
  22. G. Öz, I. Iltis, D. Hutter, W. Thomas, K. O. Bushara, and C. M. Gomez, “Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy,” Cerebellum, vol. 10, no. 2, pp. 208–217, 2011. View at Publisher · View at Google Scholar · View at Scopus
  23. A. Weyer, M. Abele, T. Schmitz-Hübsch et al., “Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients,” Movement Disorders, vol. 22, no. 11, pp. 1633–1637, 2007. View at Publisher · View at Google Scholar · View at Scopus
  24. T. Schmitz-Hübsch, S. T. du Montcel, L. Baliko et al., “Scale for the assessment and rating of ataxia: development of a new clinical scale,” Neurology, vol. 66, no. 11, pp. 1717–1720, 2006. View at Publisher · View at Google Scholar · View at Scopus
  25. M. Shi, J. Bradner, A. M. Hancock et al., “Cerebrospinal fluid biomarkers for Parkinson disease diagnosis and progression,” Annals of Neurology, vol. 69, no. 3, pp. 570–580, 2011. View at Publisher · View at Google Scholar · View at Scopus
  26. The Multiple-System Atrophy Research Collaboration, “Mutations in COQ2 in familial and sporadic multiple-system atrophy,” The New England Journal of Medicine, vol. 369, pp. 233–244, 2013. View at Publisher · View at Google Scholar