--- license: permission_granted topic_id: companion_breed_health_italian_spinone_spinocerebellar_ataxia_dog category: companion-breed-health title: "Italian Spinone — Spinocerebellar 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/italian_spinone_spinocerebellar_ataxia_4009.txt date_parsed: 2026-08-02 tokens_estimated: 637 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_italian_spinone_spinocerebellar_ataxia_dog/01_companion_breed_health_italian_spinone_spinocerebellar_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: "Italian Spinone — Spinocerebellar ataxia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002097/9615/" 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
Italian Spinone — Spinocerebellar 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: Italian Spinone (Dog)Disorder: Spinocerebellar ataxiaMode of inheritance: Autosomal recessiveSummary: Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by genetic variants in the ITPR1 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: Clinical signs start to appear at four months of age and progress to a degree of dysfunction which leads to euthanasia of affected dogs at one year of age on average. ... Neurological characteristics of SCAIS include a wide-based stance, spinocerebellar ataxia characterised by thoracic limb hypermetria (hyperextension), pelvic limb hyperflexion, truncal swaying, impaired balance, pendular nystagmus and absent menace response bilaterally. The remainder of the neurological examination was within normal limits. As the disease progressed intentional head tremor was observed and balance impairment deteriorated to the point that the dogs were unable to stand up and ambulate at approximately 1 year of age. (Forman et al. 2015)Defect: yesPathology: The overall size and volume ratios of ITPR1 mutant Italian Spinone cerebella as well as the lobule and folia formation, the diameters of the fissures and sulci and the area of the subarachnoid space were within a normal range. Cerebellocortical layers were sharply delineated, the Purkinje cells (PC) were correctly placed and the granule cell layer presented with normal density and glomerula formation. ... In affected IS, the molecular layer exhibited some focal stellate cell hypercellularity. (Forman et al. 2015). Immunohistochemistry with an anti-ITPR1 antibody revealed a distortion of the of monoplanar orientation of the dendritic trees. Instead of the two-dimensional arborisation in sagittal plane, the dendrites, now birch-broom-like, extended into the molecular layer towards the pial membrane. Thereby, secondary and tertiary dendrites and spiny branchlets left the stem at a moderately steep angle (Fig. 6d). Both reduced ITPR1 expression and the defective planar orientation of immunopositive cells involved all lobules and functional subfields of the affected cerebella with a mild emphasis on the spinocerebellar parts of the vermis. (Forman et al. 2015)
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 388244992 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Forman et al. (2015) identified an expanded GAA-repeat in intron 35 of the ITPR1 gene in affected dogs. The wildtype sequence contains 8 GAA repeats. The expanded disease-associated alleles carry an estimated 318-651 GAA repeats. Using immunohistochemistry Forman et al. (2015) observed reduced ITPR1 protein expression in Purkinje cells of the cerebellum and a distortion of the monoplanar orientati…
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.
- 2015. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome — PubMed:PMID25354648 | DOI:10.1007/s00335-014-9547-6 — OMIA Phene_Article / Article
- 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article
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:606658 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:117360 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:206700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:147265 (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."