Abstract
BackgroundCerebellar 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.ResultsCA 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%.ConclusionsIn conclusion, morphometric MRI and genetic analysis could be helpful to support the diagnosis of CA in vivo.
Highlights
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 aims of the current study are the assessment of subjective evaluation of brain magnetic resonance imaging (MRI), objective MR morphometry and genetic testing regarding their value in diagnosing CA intra vitam in horses with histologically proven disease
At clinical examination, the vital parameters of the examined horses were within their normal range
Summary
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. Due to the hereditary nature of the disease, genetic testing can support the diagnosis of CA. Cerebellar abiotrophy (CA) is a neurological disease characterized by intrinsic spontaneous degeneration of premature neuronal cells. For intra vitam diagnosis of CA the use of MRI is not widely used or described in horses [11]. On the other hand, several studies showed the usefulness of this diagnostic imaging technique for the diagnosis of cerebellar degenerative diseases [13,14,15,16,17,18,19,20]
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