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.

Cerebellar Abiotrophy Across Domestic Species

“…The larger domestic species, such as the cow, goat, sheep, and horse, have an earlier onset of CA with a slower progression. This ranges from the day of birth to almost 2 years in the cow [36, 48], 6 to 9 months in the goat [49], 4 weeks to 5 months in sheep [30, 40, 50], and 6 to 9 months in the horse [32, 51–53]. In order to properly resolve CA onset in these species, time series experiments capturing the onset of CA and the mechanisms underlying the onset are necessary.…”

Estudio histológico comparado de abiotrofia cerebelosa en un perro y un potrillo

“…Los cambios histológicos observados en la perra american staffordshire terrier de este estudio fueron similares a los reportados previamente para la misma raza, así como para otras razas caninas (Chieffo et al, 1994;Flegel et al, 2007;Forman et al, 2012;Henke et al, 2008;Jokinen et al, 2007;Kyostila et al, 2012;Olby et al, 2004;Sandy et al, 2002;Thomas y Robertson, 1989;Urkasemsin et al, 2010Urkasemsin et al, , 2017. Asimismo, los cambios observados en el equino también fueron similares a los reportes anteriores en caballos árabes (Blanco et al, 2006;Bugno-Poniewierska et al, 2019;Cavalleri et al, 2013;Sadaba et al, 2016;Scott et al, 2017Scott et al, , 2018. Aunque la relación entre la pérdida de células de Purkinje y la disminución de los elementos celulares en la capa granulosa se ha discutido a partir de las potenciales diferencias existentes entre las razas de una misma especie, así como por el tiempo transcurrido desde el inicio de los signos neurológicos, este detalle de las lesiones reportadas aún no se ha dilucidado de forma definitiva (Fenn et al, 2016;Huska et al, 2013;Olby et al, 2004;Shearman et al, 2011).…”

Clinical, imaging and histopathological characterization of a series of three cats with cerebellar cortical degeneration

“…It is defined as the premature degeneration of fully differentiated cerebellar cells, most frequently the Purkinje cells, due to genetic or metabolic defects [10]. The condition has been described in a wide range of domestic animals [11], including dogs [12][13][14][15][16][17][18], horses [19][20][21][22][23], goats [24], sheep [25], rabbits [26], cows [27] and cats [7,8,[28][29][30][31]. Although the genetic etiology and diagnostic venues have been extensively investigated in dogs and horses [32,33], few diagnostic criteria, other than postmortem, have been evaluated in the rare series of feline cases.…”