--- license: permission_granted topic_id: companion_breed_health_italian_cane_corso_omia2974_dog category: companion-breed-health title: "Italian Cane Corso — Neuronal ceroid lipofuscinosis, 1 (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_cane_corso_omia2974_2974.txt date_parsed: 2026-08-02 tokens_estimated: 813 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_italian_cane_corso_omia2974_dog/01_companion_breed_health_italian_cane_corso_omia2974_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 Cane Corso — Neuronal ceroid lipofuscinosis, 1 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001504/9615/" 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 Cane Corso — Neuronal ceroid lipofuscinosis, 1 (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 Cane Corso (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. NCL1 is a rare disorder of dachshunds caused by severely deficient palmitoyl protein thioesterase (PPT1) activity. Signs appear as early as nine months of age, and include behavioral changes, nervousness, disorientation, ataxia, weakness, kyphosis, stiffness of gait, uncontrolled rhythmic head movements, and visual impairment. Fundic examination may show diffuse retinal thinning and retinal vessel degeneration. The mode of inheritance is autosomal recessive. There is no effective treatment. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACTClin feat: Diffuse retinal thinning and severe retinal vessel degeneration were present at 7 months of age, followed by complete blindness at 8 months of age (Sanders et al., 2010). Additional signs appeared at nine months of age, including disorientation, ataxia, weakness, visual impairment, and behavioral changes. These progressed to kyphosis and stiffness in gait, uncontrolled rhythmic head movements, inability to recognize the owner, severe vision loss, sensitivity to loud noise, inappropriate vocalization, circling, loss of coordination and general weakness. There is no effective treatment.Defect: yesPathology: The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by intraneuronal accumulation of fluorescent granules, early neuronal death, and progressive neurodegeneration of the central nervous system. Affected dogs are severely deficient in palmitoyl protein thioesterase (PPT1), a key enzyme in creating hydrophobic regions in proteins, allowing them to interact with membranes, participate in vesicular transport and signal transduction, and maintain cellular architecture. As a result of severely deficient PPT1 activity, autofluorescent material accumulates in neuronal lysosomes of the retina, cerebellum, and cerebral cortex, followed by progressive neurodegeneration (Sanders et al., 2010). The central retina maintains its normal thickness and structure, and has inclusions in many retinal layers, including photoreceptor inner segments, outer nuclear layer, and ganglion cell layer. The peripheral retina appears significantly thinned with loss of the photoreceptor cell layer and absence of normal structural layering (Sanders et al., 2010). Storage material is widely abundant in the cerebral cortex and cerebellum. In the latter, increased concentration was identified in the granular layer with little or no accumulation in Purkinje cells (Sanders et al., 2010).Prevalence: Thus far, one affected animal and three carriers from the same pedigree have been identified (Sanders et al., 2010).Control: Parents of affected dogs are obligate carriers. Siblings of affected animals should be tested. Breeding of affected or carrier dogs is not recommended.Gen test: A test is available to detect the causative mutation in Dachshunds.
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 475316 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: A causative mutation in Dachshunds is a single nucleotide insertion (c.736-737insC) in exon 8 of PPT1, which causes a frameshift in amino acid codons and a premature stop codon. The resultant truncated PPT1 protein lacks a hydrophobic region that is key to enzyme activity, such that the affected dachshund brain has only 3% activity of normal dogs (Sanders et al., 2010). Whole-genome sequencing of …
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.
- 2010. A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab — PubMed:PMID20494602 | DOI:10.1016/j.ymgme.2010.04.009 — OMIA Phene_Article / Article
- 2010. Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis — PubMed:PMID20429032 | DOI:10.1007/s10545-010-9075-9 — 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. Homozygous PPT1 splice donor mutation in a Cane Corso dog with neuronal ceroid lipofuscinosis. J Vet Intern Med — PubMed:PMID28008682 | DOI:10.1111/jvim.14632 — 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. 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:256730 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:600722 (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."