Primary, congenital neuroaxonal dystrophy with peripheral nerve demyelination in Merino–Border Leicester × Polled Dorset lambs

Abstract

Although lambs previously diagnosed with NAD have ranged in age from 2 days to 7 months, this is believed to be the first report of congenital NAD in this species. Moreover, the present cases are the only ones in which peripheral nerve demyelination has been found.

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

“…In veterinary medicine, sporadic cases of NAD have been previously described in sheep (OMIA 000715-9940), as well as cattle (Hanshaw et al 2015), dogs (OMIA 000715-9615), cats (OMIA 000715-9685), rabbits (OMIA 000715-9986), and horses (OMIA 000715-9796). Although, there is a variation in the age of affected lambs in the previous reports of ovine NAD cases, the clinicopathological features are comparable in all the different sheep breeds including Merino (Harper and Morton 1991;Kessell et al 2012), Suffolk (Cordy et al 1967), Romney (Nuttall 1988), Perendale (Nuttall 1988), and Coopworth (Nuttall 1988), as well as multiple crossbred Merino-Border Leicester × Polled Dorset lambs (Finnie et al 2014;Hawes et al 2017). However, the underlying genetic variants to date have been characterized only in dogs, representing four breed-specific autosomal recessive variants in MFN2 (Fyfe et al 2011), TECPR2 (Hahn et al 2015), PLA2G6 (Tsuboi et al 2017), and VPS11 (Lucot et al 2018) genes.…”