What is the human equivalent of Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke; NCL8)?

OMIA links Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke; NCL8) to its human counterpart in OMIM (OMIM 614306, OMIM 614558, OMIM 617080, OMIM 618364), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke; NCL8)

Q: How well studied is Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke; NCL8) in dogs?

OMIA curates 4 peer-reviewed references for Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke; NCL8). The full, linked citation list is on this page.

Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke; NCL8). Autosomal recessive. Observed in 0 of 266 breeds tested in the Sniff Atlas, with measured variant frequencies drawn from 242,663 dogs (Donner 2023). Whether a dog carrying this variant is at risk depends on the disease’s inheritance pattern; outcome also depends on penetrance, modifiers, and environment. The frequencies below describe variant prevalence, not confirmed disease incidence.

OMIA identifier: OMIA:002194-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human cognitive impairment with or without cerebellar ataxia

This canine condition is studied as a natural model of cognitive impairment with or without cerebellar ataxia in people; it is not the same as a human cognitive impairment with or without cerebellar ataxia diagnosis. Studying dogs can move medicine forward for everyone; the canine disease remains the subject.

In humans it is also called: CIAT.

MONDO:0013680 OMIM 614306 OMIM 614558

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 2026-08-27.

Clinical features

Letko et al. (2019): "Clinical signs of cerebellar dysfunction in the four puppies (one male, three females) were observed immediately when their normal littermates started to move in a coordinated fashion, so after approximately three weeks of age. The affected dogs exhibited ataxia, tremors, loss of balance, falling and other movement problems . . . . Furthermore, the dog breeder reported that the vision of the affected dogs might be impaired. The severity of the clinical signs resulted in euthanasia of all cases by the age of 10–12 weeks."

Molecular genetics

letko et al. (2019): "Private whole-genome sequence variants of one ataxia case against 600 unrelated controls revealed one protein-changing variant within the critical interval in the SCN8A gene (c.4898G>T; p.Gly1633Val). Perfect segregation with the phenotype was confirmed by genotyping >200 Alpine Dachsbracke dogs. SCN8A encodes a voltage-gated sodium channel and the missense variant was predicted deleterious by three different in silico prediction tools. Pathogenic variants in SCN8A were previously reported in humans with ataxia, pancerebellar atrophy, and cognitive disability [see MIM hyperlinks above]. Furthermore, cerebellar ataxia syndrome in the ‘jolting’ mutant mice is caused by a missense variant in Scn8a. Therefore, we considered the SCN8A:c.4898G>T variant to be the most likely cause for recessively inherited spinocerebellar ataxia in Alpine Dachsbracke dogs."

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 614306 Disease · OMIM 614558 Disease · OMIM 617080 Disease · OMIM 618364 Gene · OMIM 600702

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002194-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

OMIA curates the disease definition, the clinical description and the reference list. The cross-species disease identity is Monarch's. Sniff renders these and adds the breed-level frequencies, the plain-language summary, and a stated reason wherever a number is missing.

The evidence

Published references

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

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Phenotypic and genetic aspects of hereditary ataxia in dogs. · J Vet Intern Med · 2023 · PMID 37341581
An overview of canine inherited neurological disorders with known causal variants. · Animals (Basel) · 2023 · PMID 38003185
A missense variant in SCN8A in Alpine Dachsbracke dogs affected by spinocerebellar ataxia. · Genes (Basel) · 2019 · PMID 31083464

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.

Your breed

See what Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke; NCL8) looks like in your dog's breed.

Variant frequency by breed

Observed only in small-sample breeds

Maximum variant frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. 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.

Scope of this record

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 variant frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

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:002194-9615.
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.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:002194-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated August 27, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002194-9615 · Donner et al. 2023