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Adult Paroxysmal Dyskinesia

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Test Overview:

Do not breed affected dogs that are homozygous for the PIGN mutation, to prevent producing affected puppies. Avoid carrier × carrier matings since this pairing carries a 25% risk of affected offspring per litter. Breed carriers only to clear (non-carrier) dogs, which prevents affected puppies but may produce some carriers. Routine genetic testing in breeds known to have PxD mutations (like Soft-coated Wheaten Terriers) is advised for all breeding stock. Breed clubs and veterinary genetic counselling can provide guidelines to responsibly manage breeding programs and reduce disease incidence.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

PIGN

Variant Detected:

c.398 C>T in exon 3

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Kinoshita T, Murakami Y, O’Brien DP. A homozygous PIGN missense mutation in soft-coated wheaten terriers with a canine paroxysmal dyskinesia. Neurogenetics. 2017 Jan;18(1):39-47. doi: 10.1007/s10048-016-0502-4. [PubMed: 27891564]

Associated Breed(s):

Mixed Breed, Soft Coated Wheaten Terrier,

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