--- license: permission_granted topic_id: companion_breed_health_american_bulldog_omia2975_dog category: companion-breed-health title: "American Bulldog — Neuronal ceroid lipofuscinosis, 10 (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/american_bulldog_omia2975_2975.txt date_parsed: 2026-08-02 tokens_estimated: 460 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_american_bulldog_omia2975_dog/01_companion_breed_health_american_bulldog_omia2975_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: "American Bulldog — Neuronal ceroid lipofuscinosis, 10 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001505/9615/" 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
American Bulldog — Neuronal ceroid lipofuscinosis, 10 (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: American Bulldog (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. Onset is usually before 2 years of age, with death by 7 years of age. Unlike other forms of NCL, dogs with NCL10 do not show signs of cerebral dysfunction or blindness. A genetic test is available.Clin feat: Onset of signs is usually before 2 years of age and includes hypermetria, dysmetria, paraparesis, ataxia, and progressive psychomotor degeneration. Signs progress slowly, with death by 7 years of age (Awano et al., 2006).Unlike many other NCLs, American bulldogs with NCL10 do not show signs of cerebral dysfunction or blindness (Evans et al, 2005).Defect: yesPathology: Cytoplasmic autofluorescent storage material is present in neurons of the cerebrum, cerebellum, and retina. The most concentrated areas of neuronal cytoplasmic inclusion material is in the gracilic, medial, and lateral cuneate nuclei. Axonal spheroids indicative of neuroaxonal dystrophy are present in the thalamus, caudal medulla, and spinal cord grey matter. Muscle and nerve biopsies have changes consistent with mild denervation (Evans et al., 2005). In the retina, inclusions appear in photoreceptor cells, mostly in cones, in the outer limiting membrane next to the outermost layer of photoreceptor nuclei (Awano et al., 2006).Prevalence: Allelic frequency was 28% in the American bulldog population studied to identify the causative mutation (Awano et al., 2006).Control: Relatives of affected dogs should be tested. Avoid breeding affected or carrier dogs.Gen test: A genetic test is 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 483662 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 2005. A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med — PubMed:PMID15715047 — OMIA Phene_Article / Article
- 2006. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab — PubMed:PMID16386934 | DOI:10.1016/j.ymgme.2005.11.005 — OMIA Phene_Article / Article
- 2005. The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID16293139 | DOI:10.1111/j.1365-2052.2005.01375.x — OMIA Phene_Article / Article
- 2013. Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta — PubMed:PMID23338040 | DOI:10.1016/j.bbadis.2013.01.009 — 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
- 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
- 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:610127 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:116840 (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."