OMIA 000175-9925 : Cerebellar abiotrophy in Capra hircus

In other species: dog , domestic cat , horse , cattle , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600224

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Also known as neonatal cerebellar cortical degeneration (NCCD)

Inheritance: In the only published report to date, Koehler et al. (2015) reported familial occurrence but no segregation analysis: "All the goats were of mixed-breed and were from a small scale hobby farm in Alabama. Case 1 was a 9-month-old male and cases 2 (male) and 3 (female) were 6-month-old twins. All affected animals had the same sire and the two dams were both half-sisters to each other and second cousins to the sire. Of the seven kids born from the matings of the sire and these two dams, five have been affected and two unaffected; currently, two affected animals and two unaffected animals are alive. A mating between the sire and a third dam (also a half-sister to these dams by the same sire) has produced two unaffected offspring."

Clinical features: As reported by Koehler et al. (2015), "The animals all presented with early juvenile-onset ataxia, hypermetria, wide-based stance, head tremors and nystagmus. On MRI and at gross examination, there was moderate thinning of the cerebellar vermis and sharpening of the folia. Histologically, the vermis, paravermis and flocculonodular lobe had moderate to severe segmental loss of Purkinje cells with sparing of the hemispheres and secondary loss of granule cells and astrogliosis."

Edit History

  • Created by Frank Nicholas on 31 Dec 2015
  • Changed by Frank Nicholas on 31 Dec 2015