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BMC veterinary research2013; 9; 105; doi: 10.1186/1746-6148-9-105

Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses.

Abstract: Cerebellar abiotrophy (CA) is a rare but significant disease in Arabian horses caused by progressive death of the Purkinje cells resulting in cerebellar ataxia characterized by a typical head tremor, jerky head movements and lack of menace response. The specific role of magnetic resonance imaging (MRI) to support clinical diagnosis has been discussed. However, as yet MR imaging has only been described in one equine CA case. The role of MR morphometry in this regard is currently unknown. Due to the hereditary nature of the disease, genetic testing can support the diagnosis of CA. Therefore, the objective of this study was to perform MR morphometric analysis and genetic testing in four CA-affected Arabian horses and one German Riding Pony with purebred Arabian bloodlines in the third generation. Results: CA was diagnosed pathohistologically in the five affected horses (2 months - 3 years) supported by clinical signs, necropsy, and genetic testing which confirmed the TOE1:g.2171G>A SNP genotype A/A in all CA-affected horses. On MR images morphometric analysis of the relative cerebellar size and relative cerebellar cerebrospinal fluid (CSF) space were compared to control images of 15 unaffected horses. It was demonstrated that in MR morphometric analyses, CA affected horses displayed a relatively smaller cerebellum compared to the entire brain mass than control animals (P = 0.0088). The relative cerebellar CSF space was larger in affected horses (P = 0.0017). Using a cut off value of 11.0% for relative cerebellar CSF space, the parameter differentiated between CA-affected horses and controls with a sensitivity of 100% and a specificity of 93.3%. Conclusions: In conclusion, morphometric MRI and genetic analysis could be helpful to support the diagnosis of CA in vivo.
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Publication Date: 2013-05-23 PubMed ID: 23702154PubMed Central: PMC3671216DOI: 10.1186/1746-6148-9-105Google Scholar: Lookup
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  • Journal Article

Summary

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The research article discusses the use of morphometric magnetic resonance imaging (MRI) and genetic testing in diagnosing Cerebellar abiotrophy (CA) in Arabian horses, a rare, hereditary disease which causes the progressive degeneration of certain brain cells leading to a lack of coordination and jerky head movements.

Research Objective and Methodology

  • The objective of the research was to explore the potential uses of magnetic resonance morphometry and genetic testing in diagnosing Cerebellar abiotrophy (CA) in Arabian horses. CA is a rare but significant disease caused by the progressive death of Purkinje cells.
  • The researchers employed MR imaging and genetic testing on four CA-affected Arabian horses and one German Riding Pony with Arabian bloodlines in the third generation. Additionally, for control purposes, images of 15 unaffected horses were also analyzed.
  • The diagnosis of CA was also supported through pathohistological methods, clinical signs, and necropsy.

Results and Findings

  • The results of the research show that CA was diagnosed by supported integrated methods in all the five affected horses. The genetic testing confirmed a particular genotype (TOE1:g.2171G>A SNP, genotype A/A) present in all the CA-affected horses.
  • The morphometric analysis conducted using MR imaging indicated that affected horses had a relatively smaller cerebellum compared to the entire brain mass than control animals. This discovery was statistically significant (P = 0.0088).
  • In addition, the cerebellar cerebrospinal fluid (CSF) space was larger in the affected horses, again a statistically significant finding (P = 0.0017).
  • An established cutoff value used for relative cerebellar CSF space could discriminate between CA-affected horses and controls with a sensitivity of 100% and a specificity of 93.3%.

Conclusions and Implications

  • The research concluded that morphometric MRI and genetic analysis could effectively support the in vivo diagnosis of CA in horses.
  • This research is important because a rapid and effective diagnosis of CA can lead to better prognosis and management strategies for affected horses. Furthermore, it also underlines the hereditary nature of CA, thus aiding in preventive measures in breeding programs.

Cite This Article

APA
Cavalleri JM, Metzger J, Hellige M, Lampe V, Stuckenschneider K, Tipold A, Beineke A, Becker K, Distl O, Feige K. (2013). Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses. BMC Vet Res, 9, 105. https://doi.org/10.1186/1746-6148-9-105

Publication

BMC veterinary research
ISSN: 1746-6148
NlmUniqueID: 101249759
Country: England
Language: English
Volume: 9
Pages: 105

Researcher Affiliations

Cavalleri, Jessika M V
  • Clinic for Horses, University of Veterinary Medicine Hannover, Bünteweg 9, 30559, Hannover, Germany. jessika.cavalleri@tiho-hannover.de
Metzger, Julia
    Hellige, Maren
      Lampe, Virginie
        Stuckenschneider, Kathrin
          Tipold, Andrea
            Beineke, Andreas
              Becker, Kathrin
                Distl, Ottmar
                  Feige, Karsten

                    MeSH Terms

                    • Animals
                    • Cerebellar Ataxia / diagnosis
                    • Cerebellar Ataxia / genetics
                    • Cerebellar Ataxia / pathology
                    • Cerebellar Ataxia / veterinary
                    • Cerebellar Diseases / diagnosis
                    • Cerebellar Diseases / genetics
                    • Cerebellar Diseases / pathology
                    • Cerebellar Diseases / veterinary
                    • Cerebellum / pathology
                    • Female
                    • Genetic Testing / veterinary
                    • Genotype
                    • Horse Diseases / diagnosis
                    • Horse Diseases / genetics
                    • Horse Diseases / pathology
                    • Horses / genetics
                    • Magnetic Resonance Imaging / veterinary
                    • Male
                    • Microsatellite Repeats / genetics
                    • Neuroimaging / veterinary
                    • Polymorphism, Single Nucleotide / genetics

                    References

                    This article includes 33 references
                    1. DeLahunta A. Abiotrophy in Domestic Animals: A Review.. Can J Vet Res 1990;54:65–76.
                      pmc: PMC1255608pubmed: 2407332
                    2. Bjorck G, Everz KE, Hansen HJ, Henricson B. Congenital cerebellar ataxia in the gotland pony breed.. Zbl Vet Med A 1973;20:341–354.
                      pubmed: 4199630
                    3. Koch P, Fischer H. Die Oldenburger Fohlenataxie als Erbkrankheit.. Tierarztl Umsch 1950;5:317–320.
                    4. Kemp J, McOrist S, Jeffrey M. Cerebellar abiotrophy in Holstein Friesian calves.. Vet Rec 1995;136:198.
                      doi: 10.1136/vr.136.8.198pubmed: 7754595google scholar: lookup
                    5. Tipold A, Fatzer R, Jaggy A, Moore P, Vandevelde M. Presumed immune-mediated cerebellar granuloprival degeneration in the Coton de Tulear breed.. J Neuroimmunol 2000;110:130–133.
                      doi: 10.1016/S0165-5728(00)00330-1pubmed: 11024542google scholar: lookup
                    6. Foley A, Grady J, Almes K, Patton K, Davis E. Cerebellar abiotrophy in a 6-year-old Arabian mare.. Equine Vet Educ 2011;23(3):130–134.
                      doi: 10.1111/j.2042-3292.2010.00166.xgoogle scholar: lookup
                    7. Blanco A, Moyano R, Vivo J, Flores-Acuna R, Molina A, Blanco C, Monterde JG. Purkinje cell apoptosis in arabian horses with cerebellar abiotrophy.. J Vet Med A 2006;53:286–287.
                      pubmed: 16901270
                    8. Brault LS, Cooper CA, Famula TR, Murray JD, Penedo MC. Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH.. Genomics 2011;97:121–129.
                      doi: 10.1016/j.ygeno.2010.11.006pubmed: 21126570google scholar: lookup
                    9. Dungworth DL, Fowler ME. Cerebellar hypoplasia and degeneration in a foal.. Cornell Vet 1966;56:17–24.
                      pubmed: 5950937
                    10. Palmer AC, Blakemore WF, Cook WR, Platt H, Whitwell KE. Cerebellar hypoplasia and degeneration in the young Arab horse: clinical and neuropathological features.. Vet Rec 1973;93:62–66.
                      doi: 10.1136/vr.93.3.62pubmed: 4748678google scholar: lookup
                    11. Pongratz MC, Kircher P, Lang J, Hilbe M, Wehrli Eser M. Diagnostic evaluation of a foal with Cerebellar Abiotrophy using Magnetic Resonance Imaging (MRI). Pferdeheilk 2010;26:559–662.
                    12. Baird JD, Mackenzie CD. Cerebellar hypoplasia and degeneration in part-Arab horses.. Aust Vet J 1974;50:25–28.
                      doi: 10.1111/j.1751-0813.1974.tb09367.xpubmed: 4819469google scholar: lookup
                    13. Flegel T, Matiasek K, Henke D, Grevel V. Cerebellar cortical degeneration with selective granule cell loss in Bavarian mountain dogs.. J Small Anim Pract 2007;48:462–465.
                      doi: 10.1111/j.1748-5827.2006.00257.xpubmed: 17663663google scholar: lookup
                    14. Henke D, Bottcher P, Doherr MG, Oechtering G, Flegel T. Computer-assisted magnetic resonance imaging brain morphometry in American Staffordshire Terriers with cerebellar cortical degeneration.. Vet Intern Med 2008;22:969–975.
                      doi: 10.1111/j.1939-1676.2008.0138.xpubmed: 18647158google scholar: lookup
                    15. Jokinen TS, Rusbridge C, Steffen F, Viitmaa R, Syrja P, De Lahunta A, Snellman M, Cizinauskas S. Cerebellar cortical abiotrophy in Lagotto Romagnolo dogs.. J Small Anim Pract 2007;48:470–473.
                      doi: 10.1111/j.1748-5827.2006.00298.xpubmed: 17490444google scholar: lookup
                    16. Olby N, Blot S, Thibaud JL, Phillips J, O'Brien DP, Burr J, Berg J, Brown T, Breen M. Cerebellar cortical degeneration in adult American Staffordshire Terriers.. J Vet Intern Med 2004;18:201–208.
                      doi: 10.1111/j.1939-1676.2004.tb00161.xpubmed: 15058771google scholar: lookup
                    17. Sandy JR, Slocombe RE, Mitten RW, Jedwab D. Cerebellar abiotrophy in a family of Border Collie dogs.. Vet Pathol 2002;39:736–738.
                      doi: 10.1354/vp.39-6-736pubmed: 12450206google scholar: lookup
                    18. Thames R, Olby NJ, Robertson I, Flegel T, Henke D. Brain volume analysis and identification of cerebellar atrophy in different breeds of dogs using magnetic resonance imaging.. J Vet Intern Med 2008;22:769–770.
                    19. Thames RA, Robertson ID, Flegel T, Henke D, O'Brien DP, Coates JR, Olby NJ. Development of a morphometric magnetic resonance image parameter suitable for distinguishing between normal dogs and dogs with cerebellar atrophy.. Vet Radiol Ultrasoun 2010;51:246–253.
                      doi: 10.1111/j.1740-8261.2009.01655.xpubmed: 20469545google scholar: lookup
                    20. van der Merwe LL, Lane E. Diagnosis of cerebellar cortical degeneration in a Scottish terrier using magnetic resonance imaging.. J Small Anim Pract 2001;42:409–412.
                      doi: 10.1111/j.1748-5827.2001.tb02491.xpubmed: 11518422google scholar: lookup
                    21. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells.. Nucleic Acid Res 1998;16:1215.
                      pmc: PMC334765pubmed: 3344216
                    22. Mittmann EH, Wrede J, Pook J, Distl O. Identification of 21781 equine microsatellites on the horse genome assembly 2.0.. Anim Genet 2010;41:222.
                      pubmed: 19793266
                    23. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin–rapid analysis of dense genetic maps using sparse gene flow trees.. Nat Genet 2002;30:97–101.
                      doi: 10.1038/ng786pubmed: 11731797google scholar: lookup
                    24. Gerber H, Gaillard C, Fatzer R, Marti E, Pfistner B, Sustronck B, Ueltschi G, Meier HP, Herholz C, Straub R, Geissbühler U, Gerber V. Cerebelläre Abiotrophie bei Vollblutaraber-Fohlen.. Pferdeheilk 1995;11:423–431.
                    25. Adams R, Mayhew IG. Neurologic Diseases.. Vet Clin North Am Equine Pract 1985;1:209–234.
                      pubmed: 3000543
                    26. DeBowes RM, Leipold HW, Turner-Beatty M. Cerebellar abiotrophy.. Vet Clin North Am Equine Pract 1987;3:345–352.
                      pubmed: 3497695
                    27. LeGonidec G, Kuberski T, Daynes P, Hartley WJ. A neurologic disease of horses in New Caledonia.. Aust Vet J 1981;57:194–195.
                      doi: 10.1111/j.1751-0813.1981.tb00511.xpubmed: 7271609google scholar: lookup
                    28. MacKay R. Neurodegenerative Disorders. In: Equine Neurology. 1. Furr MO, Reed SM, editor. Philadelphia: Blackwell; 2008. pp. 235–255.
                    29. MacKay RJ. Brain injury after head trauma: pathophysiology, diagnosis, and treatment.. Vet Clin North Am Equine Pract 2004;20:199–216.
                      doi: 10.1016/j.cveq.2003.11.006pubmed: 15062465google scholar: lookup
                    30. Mayhew IG. Neurological and neuropathological observations on the equine neonate.. Equine Vet J Suppl 1988;5:28–33.
                      pubmed: 9118082
                    31. Mayhew J. Cerebellar abiotrophy. In: Large Animal Neurology. 2. Mayhew J, editor. Oxford: Wiley-Blackwell; 2008. p. 185.
                    32. Ferrell EA, Gavin PR, Tucker RL, Sellon DC, Hines MT. Magnetic resonance for evaluation of neurologic disease in 12 horses.. Vet Radiol Ultrasoun 2002;43:510–516.
                      doi: 10.1111/j.1740-8261.2002.tb01041.xpubmed: 12502103google scholar: lookup
                    33. Brault L, Penedo MCT. Refinement of the Equine Cerebellar Abiotrophy Locus on ECA2 by Haplotype Analysis.. J Equine Vet Sci 2009;5:318–319.

                    Citations

                    This article has been cited 9 times.
                    1. Giron C, Hélie P, Parent J, Boutin M, St-Jean G. Clinical, imaging and histopathological characterization of a series of three cats with cerebellar cortical degeneration. BMC Vet Res 2024 Jun 19;20(1):263.
                      doi: 10.1186/s12917-024-04127-3pubmed: 38890680google scholar: lookup
                    2. Hansen S, Olsen E, Raundal M, Agerholm JS. Cerebellar abiotrophy in an Icelandic horse. Acta Vet Scand 2022 Nov 26;64(1):31.
                      doi: 10.1186/s13028-022-00651-0pubmed: 36435777google scholar: lookup
                    3. Bitschi ML, Bagó Z, Rosati M, Reese S, Goehring LS, Matiasek K. A Systematic Approach to Dissection of the Equine Brain-Evaluation of a Species-Adapted Protocol for Beginners and Experts. Front Neuroanat 2020;14:614929.
                      doi: 10.3389/fnana.2020.614929pubmed: 33390909google scholar: lookup
                    4. Liuti T, Dixon PM. The use of the geometric morphometric method to illustrate shape difference in the skulls of different-aged horses. Vet Res Commun 2020 Nov;44(3-4):137-145.
                      doi: 10.1007/s11259-020-09779-8pubmed: 32700122google scholar: lookup
                    5. Schmidt MJ, Knemeyer C, Heinsen H. Neuroanatomy of the equine brain as revealed by high-field (3Tesla) magnetic-resonance-imaging. PLoS One 2019;14(4):e0213814.
                      doi: 10.1371/journal.pone.0213814pubmed: 30933986google scholar: lookup
                    6. Scott EY, Woolard KD, Finno CJ, Murray JD. Cerebellar Abiotrophy Across Domestic Species. Cerebellum 2018 Jun;17(3):372-379.
                      doi: 10.1007/s12311-017-0914-1pubmed: 29294214google scholar: lookup
                    7. Aleman M, Finno CJ, Weich K, Penedo MCT. Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. J Vet Intern Med 2018 Jan;32(1):465-468.
                      doi: 10.1111/jvim.14873pubmed: 29171123google scholar: lookup
                    8. Scott EY, Penedo MCT, Murray JD, Finno CJ. Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy. Cerebellum 2017 Apr;16(2):462-472.
                      doi: 10.1007/s12311-016-0823-8pubmed: 27709457google scholar: lookup
                    9. Kaminsky J, Bienert-Zeit A, Hellige M, Rohn K, Ohnesorge B. Comparison of image quality and in vivo appearance of the normal equine nasal cavities and paranasal sinuses in computed tomography and high field (3.0 T) magnetic resonance imaging. BMC Vet Res 2016 Jan 19;12:13.
                      doi: 10.1186/s12917-016-0643-6pubmed: 26786270google scholar: lookup
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