Familial episodic ataxia in lambs

Abstract

History: A similar episodic neurological disorder occurred in new born lambs on two unrelated properties involving disparate breeds of sheep. Because of the number of lambs born, cross-breeding and the fact it occurred in some mating groups and not others, a dominant mode of inheritance was, initially and separately, suspected in each case. The sires of affected lambs were apparently normal. Whereas one was New Zealand Romney, the other was a composite breed with East Friesian genetics, but both rams originated from the same source property. To investigate the pathogenesis of the disorder these two rams were acquired and mated with unrelated sheep, under experimental conditions in a more controlled environment.

Clinical findings: A proportion of lambs born to both sires exhibited a similar neurological disorder. Some lambs were noted to be abnormal at birth, both on home properties and in the experimental flock. They tended to adopt a head and neck extended posture and were slow to get to their feet and suckle when they then became more or less normal. When forced to move, they and other more robust lambs elicited an asymmetric gait, base-wide extensor hypertonia (hypometria) of thoracic limbs and flexor hypertonia (hypermetria) of pelvic limbs. In some there was nystagmus. After several metres of asymmetric ataxic gait they would fall to one side, sometimes adopting a sitting position. Recovery usually occurred in one to several minutes. As lambs aged, it became more difficult to elicit the episodes of dysfunction and by 6 months of age they appeared normal.

Diagnosis: The disorder was diagnosed as a dominant familial episodic cerebellovestibular ataxia inherited as a dominant trait, with incomplete penetration of observed clinical signs and variable expressivity.

Clinical relevance: A proportion of affected lambs are likely to die in the neonatal period so the specific nature of the disorder may go unrecognised. Because of incomplete penetrance and varying expressivity, many of the lambs carrying this mutation will survive without showing clinical signs and may enter breeding flocks, where the disorder may be perpetuated and contribute to neonatal deaths.