Belgian Shepherd Dog — CNS atrophy with cerebellar ataxia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_belgian_shepherd_dog_cns_atrophy_with_cerebellar_ataxia_dog category: companion-breed-health title: "Belgian Shepherd Dog — CNS atrophy with cerebellar 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/belgian_shepherd_dog_cns_atrophy_with_cerebellar_ataxia_4563.txt date_parsed: 2026-08-02 tokens_estimated: 514 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_belgian_shepherd_dog_cns_atrophy_with_cerebellar_ataxia_dog/01_companion_breed_health_belgian_shepherd_dog_cns_atrophy_with_cerebellar_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: "Belgian Shepherd Dog — CNS atrophy with cerebellar ataxia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002367/9615/" 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

Belgian Shepherd Dog — CNS atrophy with cerebellar 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: Belgian Shepherd Dog (Dog)
• Disorder: CNS atrophy with cerebellar 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 genetic variants in the SELENOP gene. Considerable genetic heterogeneity exists and variants in more than 30 other genes can lead to clinically similar phenotypes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered. In Belgian Shepherds, variants in KCNJ10 and ATP1B2 lead to clinically similar ataxia forms termed SDCA1 and SDCA2.
• Clin feat: The severity of the clinical phenotype is variable. The four affected dogs of the index family developed uncoordinated movements and intention tremor at two weeks of age. Due to the severity of their clinical signs, they were euthanized at 27 days of age. Another affected dog developed ataxia as a puppy, but remained in a relatively stable condition (with pronounced ataxia) and reached an age of 10 years (Christen et al. 2021).
• Defect: yes
• Pathology: During necropsy no gross lesions were detectable except for mild anemia. Histologically, all four animals showed similar lesions in brain and spinal cord to variable extent. In the cerebellum, all cortical layers were atrophic with depletion of Purkinje cells and granule cells. Neuroaxonal degeneration was present in midbrain, brain stem and spinal cord. Myelin content was severely diminished in the white matter of brain and spinal cord. Gliosis was evident in affected regions showing activation and increased numbers of astrocytes and microglial cells, respectively (Christen et al. 2021).
• Prevalence: At the time of the initial description, Christen et al. (2021) genotyped 631 non-affected Belgian Shepherds. They found 38 heterozygous carriers in this cohort, which corresponds to a carrier frequency of 6%.

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 388247132 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Whole genome sequencing of an affected dog revealed a homozygous ~17 kb deletion spanning the entire protein coding region of the SELENOP gene [also called SEPP1]. The exact genomic designation of the deletion is Chr4:66,946,539_66,963,863del17,325 (CanFam 3.1). The deletion was private to the sequenced dog and absent from 735 control genomes of genetically diverse dogs and wolves. Genotypes at th…

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.

• 2021. Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs. PLoS Genet — PubMed:PMID34339417 | DOI:10.1371/journal.pgen.1009716 — 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:601484 (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."