--- license: permission_granted topic_id: companion_breed_health_tibetan_terrier_omia3062_dog category: companion-breed-health title: "Tibetan Terrier — Neuronal ceroid lipofuscinosis, 12 (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/tibetan_terrier_omia3062_3062.txt date_parsed: 2026-08-02 tokens_estimated: 645 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_tibetan_terrier_omia3062_dog/01_companion_breed_health_tibetan_terrier_omia3062_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: "Tibetan Terrier — Neuronal ceroid lipofuscinosis, 12 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001552/9615/" 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
Tibetan Terrier — Neuronal ceroid lipofuscinosis, 12 (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: Tibetan Terrier (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules and early neuronal death. In the Tibetan terrier, changes in behavior and vision begin at 4-6 years of age. A genetic test is available.Clin feat: Behavioral signs usually appear around 4 to 6 years of age (Katz et al., 2005, Katz et al., 2007, Farias et al., 2011). Signs include behavioral changes, cognitive decline, cerebellar ataxia, dementia, seizures, nervousness, aggressiveness, loss of training, hypersensitivity to stimuli, loss of coordination, tremors, retinal degeneration, depressed rod function, some impairment of cone function, moderate visual impairment in low light, but good visual acuity in bright light.Defect: yesPathology: There is widespread accumulation of autofluorescent lysosomal storage material throughout the cerebral cortex, retina, and cerebellum. Stored material appears as stacks of membranes in whorls or parallel arrays, or coarsely granular and lipid-like substances. Components of this material include glial fibrillary acidic protein (GFAP), and histone H4 (Katz et al., 2007).Prevalence: As NCL is rare in other breeds, it is more common by comparison in the Tibetan terrier, which is likely due to the relatively small breeding population and adult onset of signs (Katz et al., 2005). Schmutz et al. (2019) genotyped the [c.1118Cgt;T] variant in a cohort of 397 Australian Cattle Dogs, which included the 3 known cases, dog D, 26 unaffected Australian Cattle Dogs older than 6 years of age and 367 population controls. This revealed a perfect association of the genotypes with the phenotype (Table 2). All three affected dogs carried the variant in homozygous state. Dog D, the sire of the two affected dogs was heterozygous (obligate carrier). Among the other 393 Australian Cattle dogs, we observed 352 dogs that were homozygous wildtype and 41 dogs that were heterozygous and presumably carriers for the disease. These data indicate that among the Australian Cattle Dogs that were sampled, the carrier frequency is around 10%. Because of sampling bias in our population, the carrier frequency among all Australian Cattle Dogs may be different. We also genotyped 555 dogs from genetically diverse breeds. None of these dogs carried the ATP13A2:c.1118C gt; T variant.Gen test: There is a test available.
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 389416873 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By sequencing the likely positional candidate gene mentioned in the Mapping section (above), Farias et al (2011) identified the causative mutation as a single base deletion in ATP13A2, namely "c.1,623delG, which predicted a frame shift and premature termination codon (p.P541fsX597)". Later that same year, Wöhlke et al. (2011) confirmed the same mutation, but called it c.1620delG, and stated that i…
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.
- 1992. Tibetan Terrier Model of Canine Ceroid Lipofuscinosis. American Journal of Medical Genetics — PubMed:PMID1609844 | DOI:10.1002/ajmg.1320420437 — OMIA Phene_Article / Article
- 2005. Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs. Anim Genet — PubMed:PMID15771740 | DOI:10.1111/j.1365-2052.2005.01254.x — OMIA Phene_Article / Article
- 2005. Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am J Vet Res — PubMed:PMID15691038 | DOI:10.2460/ajvr.2005.66.67 — OMIA Phene_Article / Article
- 2007. Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis. J Inherit Metab Dis — PubMed:PMID18004671 | DOI:10.1007/s10545-007-0683-y — OMIA Phene_Article / Article
- 2011. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis — PubMed:PMID21362476 | DOI:10.1016/j.nbd.2011.02.009 — OMIA Phene_Article / Article
- 1992. Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies. Acta Neuropathol — PubMed:PMID1471473 — OMIA Phene_Article / Article
- 2011. A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet — PubMed:PMID22022275 | DOI:10.1371/journal.pgen.1002304 — OMIA Phene_Article / Article
- 2002. Assessment of plasma carnitine concentrations in relation to ceroid lipofuscinosis in Tibetan Terriers. Am J Vet Res — PubMed:PMID12061538 | DOI:10.2460/ajvr.2002.63.890 — OMIA Phene_Article / Article
- 2017. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis — PubMed:PMID28860089 | DOI:10.1016/j.nbd.2017.08.017 — OMIA Phene_Article / Article
- 2019. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab — PubMed:PMID30956123 | DOI:10.1016/j.ymgme.2018.11.015 — OMIA Phene_Article / Article
- 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article
- 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article
- (2 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:606693 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:617225 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:610513 (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."