Working Kelpie — Cerebellar abiotrophy, VMP1-related (hereditary; OMIA-verified breed predisposition)

Working Kelpie — Cerebellar abiotrophy, VMP1-related (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Working Kelpie (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Summary: Cerebellar abiotropy has been first described in Australian kelpies by Thomas and Robertson in 1989. Wade et al. (2022) identified two distinct clinical and pathological features of CA in Australian working kelpies. These were associated with two separate genomic regions ... An early-onset CA form is observable within a few weeks of birth and in some cases is seen within days of birth. This form affects dogs that are homozygous for a risk marker on CFA20 [see 'OMIA 000175-9615 : Cerebellar abiotrophy in Canis lupus familiaris']. A second region of association, identified on CFA9, is associated with a later-onset form of CA [described in this OMIA entry] that is not usually diagnosed until the dogs are 4–6 months or older.
• `Clin feat: Clinical presentation in the two forms of CA in Australian Kelpies mainly differ in regard to onset of clinical signs. The form with later onset of disease at 4-6 month of age is associated with the VMP1 variant (Wade et al., 2022). Clinical signs include ataxia, wide-based stance, head tremors/intention tremor, dysmetria/incoordination, hypermetria/high-stepping gate, decreased limb proprioception (particularly hind limbs), and/or body tremors when excited. The condition is non-painful and does not affect the dog’s normal mentation or alertness. More severe forms can include fitting/grand mal seizures when overheated or excited. The condition may present mildly with only occasional periods of incoordination and no progression to more severe forms. Commonly, it will present with signs that become more obvious or progress as the animal ages (Thomas and Robertson, 1989; Shearman et al., 2008; Shearman et al., 2011; Pan et al., 2017; Wade et al., 2022).