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Multiple system degeneration (CMSD) of the Chinese Crested

Neurological · Dog

Inherited, progressive neurodegenerative disorder of the Chinese Crested dog, with degeneration of the cerebellum, caudate nucleus and substantia nigra. It appears in puppies or young dogs and progresses to inability to remain standing and euthanasia. The cause is loss of function of the SERAC1 gene. It is a test complementary to, not a substitute for, clinical examination.

Inheritance pattern	Autosomal recessive. Only affected homozygotes show signs; heterozygous carriers are clinically normal.
Gene / Mutation	SERAC1, Chinese Crested variant XM_038654522.1:c.182+1_182+4del (4 bp deletion in the splice acceptor of exon 4, which produces skipping of exon 4). In the Kerry Blue Terrier, CMSD is caused by another SERAC1 variant (c.1536G>A p.Trp512*); these are breed-specific variants.
Penetrance	No affected carriers have been described; in the published cohorts there is complete concordance between homozygosity and phenotype (apparently complete penetrance), with a small number of cases.
Code	cdym
Turnaround time	15 days
Price	52,60 €

Incidence

Rare disease. Documented in the Chinese Crested dog and in the Kerry Blue Terrier (with a different variant). No carrier frequencies have been published; limited data.

Breeder management

- Test Chinese Crested breeding animals for the SERAC1 c.182+1_182+4del variant before breeding
- Do not mate two carriers: 25 % affected homozygotes
- A carrier may be mated with a clear dog; the offspring intended for breeding must be tested
- Exclude affected animals and known carriers from breeding
- Do not extrapolate the Kerry Blue variant to the Crested or vice versa: they are different variants

Specialist notes

Differential diagnosis with other degenerative cerebellar ataxias and with cerebellar atrophies of juvenile onset. MRI guides by the involvement of the caudate, putamen and substantia nigra. Canine CMSD is a model of human disorders due to SERAC1 deficiency. Confirm the variant by sequencing before any reproductive decision.

References

1. Zeng R et al. 2024, Canine multiple system degeneration associated with sequence variants in SERAC1. Genes (Basel) 15(11):1378. PMID: 39596578. 2. O'Brien DP et al. 2005, Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. J Hered. PMID: 15958791. OMIA:001468-9615.

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