Jack Russell Terrier — spinocerebellar ataxia, hereditary ataxia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_jack_russell_terrier_spinocerebellar_ataxia_hereditary_ataxia_dog category: companion-breed-health title: "Jack Russell Terrier — spinocerebellar ataxia, hereditary ataxia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/jack_russell_terrier_spinocerebellar_ataxia_hereditary_ataxia_3545.txt date_parsed: 2026-08-02 tokens_estimated: 404 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_jack_russell_terrier_spinocerebellar_ataxia_hereditary_ataxia_dog/01_companion_breed_health_jack_russell_terrier_spinocerebellar_ataxia_hereditary_ataxia_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Jack Russell Terrier — spinocerebellar ataxia, hereditary ataxia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001820/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Jack Russell Terrier — spinocerebellar ataxia, hereditary ataxia (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: Jack Russell Terrier (Dog)
• Disorder: spinocerebellar ataxia, hereditary ataxia
• Mode of inheritance: Autosomal recessive
• 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 CAPN1 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.
• Clin feat: The clinics and pathology of hereditary ataxia in Jack Russell and Parson Russell Terriers were mostly studied before the different causative variants in CAPN1 (this entry) and KCNJ10 (see the related entry 002089-9615) were identified. It is therefore not fully clear which genetic form of ataxia was investigated in the earlier publications. It is likely that there are even more genetically distinct forms of ataxia present in Russell group terriers. The CAPN1 form of this disease manifests as a slowly progressing pelvic limb incoordination, with an onset usually at 2 to 9 months of age. As the disease progresses a characteristic “dancing” or “prancing” gait is displayed, especially affecting the pelvic limbs. The age at onset of Parson Russell Terrier cases that were used to identify the CAPN1:p.Cys115Tyr variant ranged between 7-12 months. (Forman et al. 2013). The supplementary video S1 in this publication illustrates the clinical phenotype.
• Defect: yes

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 388250277 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Target-enriched deep sequencing of the 1.8Mb candidate region (see Mapping section) and checking identified mutations in various samples of dogs eventually enabled Forman et al. (2013) to claim "a missense mutation ([c.344G&gt;A;] p.Cys115Tyr) in the gene encoding the large subunit of calcium dependent cysteine protease, μ-calpain (CAPN1)" as "a provocative candidate for the cause of SCA in the PR…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1973. Ataxia in Jack Russell Terriers. Acta Neuropathol — PubMed:PMID4747697 | DOI:10.1007/BF00685524 — OMIA Phene_Article / Article
• 1991. Congenital tremor with spongy degeneration of the central nervous system in two puppies. J Vet Intern Med — PubMed:PMID2061870 | DOI:10.1111/j.1939-1676.1991.tb00937.x — OMIA Phene_Article / Article
• 1993. Cerebellar ataxia in Jack Russell Terriers. Veterinary Record — OMIA Phene_Article / Article
• 2004. Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. J Vet Intern Med — PubMed:PMID15320590 | DOI:10.1892/0891-6640(2004)18<515:haitjr>2.0.co;2 — OMIA Phene_Article / Article
• 2013. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One — PubMed:PMID23741357 | DOI:10.1371/journal.pone.0064627 — OMIA Phene_Article / Article
• 2012. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID22634896 | DOI:10.1136/vr.e3642 — OMIA Phene_Article / Article
• 2012. Hereditary ataxia, myokymia and neuromyotonia in Jack Russell Terriers. Vet Rec — PubMed:PMID22872628 | DOI:10.1136/vr.e5021 — OMIA Phene_Article / Article
• 2014. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID24736825 | DOI:10.1136/vr.g1972 — OMIA Phene_Article / Article
• 2014. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec — PubMed:PMID24736826 | DOI:10.1136/vr.g1973 — OMIA Phene_Article / Article
• 2016. Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans. Cell Reports — PubMed:PMID27320912 | DOI:10.1016/j.celrep.2016.05.044 — OMIA Phene_Article / Article
• 2016. [Correction to] Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. American Journal of Human Genetics — PubMed:PMID27259058 | DOI:10.1016/j.ajhg.2016.05.009 — OMIA Phene_Article / Article
• 2016. Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am J Hum Genet — PubMed:PMID27153400 | DOI:10.1016/j.ajhg.2016.04.002 — OMIA Phene_Article / Article
• (4 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:616907 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:114220 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."