First report of cerebellar abiotrophy in an Arabian foal from Argentina.
Abstract: Evidence of cerebellar abiotrophy (CA) was found in a six-month-old Arabian filly with signs of incoordination, head tremor, wobbling, loss of balance and falling over, consistent with a cerebellar lesion. Normal hematology profile blood test and cerebrospinal fluid analysis excluded infectious encephalitis, and serological testing for Sarcocystis neurona was negative. The filly was euthanized. Postmortem X-ray radiography of the cervical cephalic region identified not abnormalities, discounting spinal trauma. The histopathological analysis of serial transverse cerebellar sections by electron microscopy revealed morphological characteristics of apoptotic cells with pyknotic nuclei and degenerate mitochondria, cytoplasmic condensation and areas with absence of Purkinje cells, matching with CA histopathological characteristics. The indirect DNA test for CA was positive in the filly, and DNA test confirmed the CA carrier state in the parents and the recessive inheritance of the disease. To our knowledge this is the first report of a CA case in Argentina.
Publication Date: 2016-12-22 PubMed ID: 28116251PubMed Central: PMC5223285DOI: 10.4314/ovj.v6i3.17Google Scholar: Lookup
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Summary
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This paper discusses a case of cerebellar abiotrophy in a young Arabian horse in Argentina. The genetically inherited disorder was confirmed after tests which ruled out other conditions, euthanasia, and a postmortem examination which found hallmarks of this degenerative brain disease.
Introduction to Cerebellar Abiotrophy
- Cerebellar abiotrophy (CA) is a neurodegenerative disease that affects the cerebellum region of the brain, leading to symptoms like incoordination, head tremors, wobbling, loss of balance, and falling.
- This degenerative disorder affects various species but has been heavily documented in Arabian horses.
- The paper discusses an occurrence of this disorder in a young Arabian horse in Argentina.
Diagnosis Procedures
- The standard clinical signs, including incoordination and head tremor, led to suspicion of CA in the affected filly.
- To rule out the possibility of other illnesses, such as infectious encephalitis, a blood test and cerebrospinal fluid analysis were done which turned out normal.
- The horse was also tested for other infections, but all tests were negative.
Postmortem Analysis
- Normal x-ray radiography of the cervical cephalic region did not show any abnormalities, ruling out spinal trauma as the cause of the physical symptoms.
- Upon euthanasia, the filly was subjected to histopathological analysis. This involved examining cerebellar sections using an electron microscope.
- This revealed the presence of pyknotic nuclei and degenerate mitochondria, apoptotic cells, cytoplasmic condensation, and absent Purkinje cells, all of which are characteristic markers of CA at the cellular level.
DNA Testing Revealed Recessive Inheritance Pattern
- Indirect DNA testing on the horse was positive for CA, which further confirmed the diagnosis.
- Additionally, DNA testing demonstrated that the horse’s parents were carriers of the disease, demonstrating a recessive inheritance pattern of CA.
Significance of the Study
- This study is noteworthy as it is the first documented instance of CA in Argentina.
Cite This Article
APA
Sadaba SA, Madariaga GJ, Botto CM, Carino MH, Zappa ME, García PP, Olguín SA, Massone A, Díaz S.
(2016).
First report of cerebellar abiotrophy in an Arabian foal from Argentina.
Open Vet J, 6(3), 259-262.
https://doi.org/10.4314/ovj.v6i3.17 Publication
Researcher Affiliations
- IGEVET - Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout" (UNLP-CONICET La Plata), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina; Research Fellows from Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET). Av. Rivadavia 1917 (C1033AAJ) CABA, Argentina.
- Laboratorio de Patología Especial Veterinaria, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina.
- IGEVET - Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout" (UNLP-CONICET La Plata), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina; Research Fellows from Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET). Av. Rivadavia 1917 (C1033AAJ) CABA, Argentina.
- IGEVET - Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout" (UNLP-CONICET La Plata), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina.
- IGEVET - Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout" (UNLP-CONICET La Plata), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina.
- IGEVET - Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout" (UNLP-CONICET La Plata), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina.
- Cátedra de Métodos Complementarios de Diagnóstico, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina.
- Laboratorio de Patología Especial Veterinaria, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina.
- IGEVET - Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout" (UNLP-CONICET La Plata), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata, Argentina.
References
This article includes 10 references
- Blanco A, Moyano R, Vivo J, Flores-Acuña R, Molina A, Blanco C, Monterde JG. Purkinje cell apoptosis in Arabian horses with cerebellar abiotrophy.. J. Vet. Med. A Physiol. Pathol. Clin. Med. 2006;53:286–287.
- 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 2011a;97:121–129.
- Brault LS, Famula TR, Penedo MC. Inheritance of equine cerebellar abiotrophy in Arabians.. Am. J. Vet. Res. 2011b;72(7):940–944.
- Brault LS, Penedo MC. The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse breeds.. Equine Vet. J. 2011;43(6):727–731.
- DeBowes RM, Leipold HW, Turner-Beatty M. Cerebellar abiotrophy.. Vet. Clin. North. Am. Equine. Pract. 1987;3(2):345–352.
- de Lahunta A. Abiotrophy in domestic animals: a review.. Can J. Vet. Res. 1990;54(1):65–76.
- Dungworth DL, Fowler ME. Cerebellar hypoplasia and degeneration in a foal.. Cornell Vet. 1966;56(1):17–24.
- Fox J, Duncan R, Friday P, Klein B, Scarratt W. Cerebello-olivary and lateral (accessory) cuneate degeneration in a juvenile American Miniature Horse.. Vet. Pathol. 2000;37(3):271–274.
- Fraser H. Two dissimilar types of cerebellar disorder in the horse.. Vet. Rec. 1966;78(18):608–612.
- 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(3):62–66.
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