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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

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