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Canine Mendelian disease record

Neonatal Cerebellar Cortical Degeneration (SPTBN2-related; NCCD)

Neonatal Cerebellar Cortical Degeneration (SPTBN2-related; NCCD). Autosomal recessive. Observed in 2 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier
OMIA:002092-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human autosomal recessive spinocerebellar ataxia 14

This is the canine counterpart of autosomal recessive spinocerebellar ataxia 14 in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

In humans it is also called: SCAR14, SPARCA, SPARCA1, spinocerebellar ataxia, autosomal recessive 14, SPTBN2 autosomal recessive cerebellar ataxia.

MONDO:0014159 OMIM 600224OMIM 615386

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Closely related human conditions exist for this gene. Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SPTBN2 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered. The SPTBN2 associated canine disorder represents a model for spinocerebeallar ataxia, autosomal recessive 14, and possibly also spinocerebellar ataxia 5 in humans (see MIM links above).

Clinical features

A (single) four- week- old male beagle puppy with a ten-day history of severe cerebellar ataxia was investigated. "The dog was the only affected one from a litter of seven puppies. The breeder noticed that the affected puppy was not able to ambulate normally from the onset of walking and the clinical signs had remained stable since then. The puppy was otherwise eating and drinking well and there were no signs of systemic illness in the littermates, in the dam (also during gestation) or in the sire. Physical examination did not reveal any gross abnormalities apart from the neurological signs. Neurological examination revealed severe cerebellar ataxia, with tendency to lean and fall towards both sides, resulting in inability to walk without assistance. Proprioceptive positioning was normal while hopping reactions were abnormal with delayed onset of protraction and exaggerated response, once initiated. Spinal reflexes were normal in all four limbs. Cranial nerve examination revealed an absent menace response bilaterally with normal vision. Occasionally when the head was positioned in extension spontaneous rotatory nystagmus was observed. A lesion involving mainly the cerebellum and spinocerebellar tracts was suspected." (Forman et al. 2012)

Molecular genetics

In the first published success of genome-wide RNA sequencing (mRNA-seq) in domestic animals, Forman et al. (2012) sequenced the mRNA from the cerebellum of one affected dog. The canine sequence data were compared with sequence of 27 human genes in which mutations have caused similar clinical signs in humans, and which have canine homologues. One of the canine homologues, SPTBN2, turned out to have an 8bp deletion which segregates perfectly with the canine disease. The deletion is in exon 29 "is predicted to result in a run of 27 aberrant amino acids, followed by premature termination with a 410 amino acid truncation p.G1952insRDRGQGRPLLLMHRHGAGAACQEPLCS*"

Pathology

"Histopathologically, the lesions were confined to the cerebellum. Examination of serial cerebellar sections of the four week old puppy identified mild loss of Purkinje cells, with corresponding increased numbers of astrocytes. Moderate numbers of Purkinje cells were shrunken with angular cell margins, hypereosinophilic cytoplasm, and condensed nuclei (Figure 1A). Occasional associated swollen dendritic processes were identified. Spheroids were rarely seen. Mild spongiosis was present at the granular cell layer – Purkinje cell interface Bielschowsky fiber stain was performed and demonstrated the subacute loss of Purkinje cells, also called “empty baskets” " (Forman et al. 2012)

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 600224 Disease · OMIM 615386 Gene · OMIM 604985

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002092-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.

  1. ★
    Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. · BMC Genet · 2012 · PMID 22781464

    Why is this an OMIA landmark paper? It is the first example in domestic animals of the identification of a causal mutation by genome-wide sequencing of RNA (mRNA-Seq) from the relevant tissue of just a single affected animal. In this case the tissue was cerebellum. The canine sequence data were compared with sequence of 27 human genes in which mutations have caused similar clinical signs in humans, and which have canine homologues. One of the canine homologues, SPTBN2, turned out to have an 8bp deletion which segregates perfectly with the canine disease.

  3. Phenotypic and genetic aspects of hereditary ataxia in dogs. · J Vet Intern Med · 2023 · PMID 37341581

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Neonatal Cerebellar Cortical Degeneration (SPTBN2-related; NCCD) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A
Parent B
NNClear
NmCarrier
NmCarrier
mmAffected
Clear25%
Carrier50%
Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
Your breed

See what Neonatal Cerebellar Cortical Degeneration (SPTBN2-related; NCCD) looks like in your dog's breed.
Carrier frequency by breed

Top 2 well-sampled breeds (n ≥ 50)

Maximum per breed across variants in the Donner 2023 cohort, with . The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%1%2%
Beagle<0.1% · n 5,292
French Bulldog<0.1% · n 13,114
n = 18,406 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas
Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Neonatal Cerebellar Cortical Degeneration (SPTBN2-related; NCCD) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
Beagle <0.1% 5,292
French Bulldog <0.1% 13,114

264 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

Scope

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

  • Sniff Atlas v1.0.1 for the per-breed carrier frequencies:

    Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.

  • OMIA for the disease definition, inheritance, and gene assignment:

    Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002092-9615.

  • Donner et al. 2023 for the breed × variant carrier-frequency cohort:

    Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002092-9615 · Donner et al. 2023