Primer diagnóstico molecular de abiotrofia cerebelar en un equino Árabe en Uruguay
2018; Universidad de la República; Volume: 54; Issue: 210 Linguagem: Espanhol
10.29155/vet.54.210.7
ISSN0376-4362
Tópico(s)Neurological diseases and metabolism
ResumoespanolLa abiotrofia cerebelar (AC) es una enfermedad neurodegenerativa causada por una mutacion en el ADN que afecta a las celulas de Purkinje del cerebelo, produciendo principalmente problemas en el balance y la coordinacion de los animales. Entre las especies que se ven afectadas se encuentra la equina, particularmente la raza Arabe. En este trabajo se presenta el caso de un potrillo arabe que presento sintomatologia compatible con AC. Los hallazgos clinicos se confirmaron mediante estudios moleculares y confirmacion por histopatologia de las lesiones. Los estudios moleculares permitieron confirmar la presencia de la mutacion causal. Dados estos hallazgos y que la sintomatologia neurologica compatible con la abiotrofia cerebelar en equinos no es nueva en nuestro pais, se considera que seria importante estudiar a nivel poblacional la raza Arabe, con el fin de conocer la prevalencia y casuistica de AC en Uruguay. Palabras clave: Abiotrofia cerebelar en equinos, equinos arabe, enfermedad hereditaria. EnglishCerebellar abiotrophy (CA) is a neurodegenerative disease caused by a mutation in the DNA that affects the Purkinje cells of the cerebellum, mainly causing problems in the balance and coordination of animals. Among the species that are affected is equine, mainly the Arabian breed. In this study we presented the case of an Arabian foal with clinic signs compatible with the pathology mentioned before. Histopathological and molecular studies were carried out to confirm the clinical findings, giving results that were positive for CA in both cases. Considering these findings and that the neurological symptomatology compatible with CA in horses is not new in our country, it is important to study the Arabian breed at a population level, in order to know the prevalence of CA in Uruguay. Key words: Equine cerebellar abiotrophy, Arabian horse, hereditary disease.
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