{"topic_id":"companion_species_health_neuronal_ceroid_lipofuscinosis_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_neuronal_ceroid_lipofuscinosis_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — neuronal ceroid lipofuscinosis (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/cat_neuronal_ceroid_lipofuscinosis_355.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 944\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_neuronal_ceroid_lipofuscinosis_cat/01_companion_species_health_neuronal_ceroid_lipofuscinosis_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Cat (Felis catus) — neuronal ceroid lipofuscinosis (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000181/9685/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (species-specific disorder entries)\"\n  needs_review: false\n\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"---\n\n# Cat (Felis catus) — neuronal ceroid lipofuscinosis (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Cat (Felis catus)`\n- `Disorder: neuronal ceroid lipofuscinosis`\n- `Summary: There are several publications describing the naturally occuring feline NCL: 2 independent cases identified in domestic short haired cats (Weissenböck and Rössel 1997 and Bildfell et al. 1995), 1 in a Japanese domestic cat (Nakayama et al. 1993) and 2 unrelated Siamese cats (Green and Little 1974). In all cases, clinical signs and pathology findings were characteristic of NCL. Weissenböck and Rössel 1997 identified subunit c of mitochondrial ATP synthase as the storage material, a protein recognised as the main component of the storage material in most NCLs. Parentage and genetic background of the affected cats were unknown; therefore, mode of inheritance could not be established. However, the studies suggested an autosomal recessive mode of inheritance. None of the feline NCLs have been characterised on a molecular level.`\n- `Clin feat: Clinical onset varied between 7 months and 2 years of age. In all cases, NCL affected cats were presented with various neurological signs such as convulsion, uncoordinated gait, seizures and altered mentation. Several generalized signs were observed including hind leg weakness and behavioural changes such as mania and less alertness. Reduced visual perception was seen in 2 of the domestic cats with 1 cat progressing to complete blindness (Bildfell et al.. 1995) and another cat's eyesight severely reduced within weeks of onset (Weissenböck and Rössel 1997). The 3 domestic cats showed a progressively deteriorating state and were euthanized within months (Nakayama et al. 1993, Bildfell et al. 1995) or weeks (Weissenböck and Rössel 1997) of clinical onset. The Siamese cat died within a month of clinical onset due to severe convulsion that led to a comatose state and death (Green and Little 1974).`\n- `Pathology: Gross examination revealed marked atrophy of the brain, particularly of the cerebral hemispheres, with moderate enlargement of the lateral ventricles (Weissenböck and Rössel 1997, Nakayama et al. 1993). No gross abnormality was observed in the other 2 cases. Nakayama et al. (1993) reported brown discolouration with presence of nodulus on the liver and spleen surface. In all cases, multiple eosinophilic cytoplasmic storage bodies of various sizes were reported in neurons throughout the brain and spinal cord. Only the Japanese domestic cat showed additional storage materials in liver, spleen and lymph nodes (Nakayama et al. 1993). The storage bodies stained deep blue with Luxol fast blue (LFB), black with Sudan black B (SB), pink with Periodic acid Schiff (PAS) and emitted yellowish green autofluorescence under fluorescent microscopy. Fluorescence was not mentioned in the Siamese cats (Green and Little 1974). Only 1 case reported a diffuse retinal degeneration (Bildfell et al. 1995) even though 2 cats were reported to show a progressive visual deterioration (Weissenböck and Rössel 1997 and Bildfell et al. 1995). Differences were found in the ultrastructure of the storage material. In the Siamese cat it was described as \"interwoven pattern with straight and curved elements\" (Green and Little 1974), the material in the domestic cats was membrane bound and multilamellar (Bildfell et al. 1995, Weissenböck and Rössel 1997), whereas Nakayama et al. (1993) reported aggregates of electron dense granular materials. Immunohistochemistry (IHC) demonstrated storage of subunit c of mitochondrial ATP synthase (SCMAS) in the cytoplasm of many neurons of one domestic cat (Weissenböck and Rössel 1997). Nakayama et al. (1993) and Bildfell et al. (1995) did not characterise the storage material, however the ultrastructural profiles of the substance may suggest SCMAS.`\n## Associated gene(s)\nDerived 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.\n- OMIA entry symbol: NCL (no structured Phene_Gene link)\n\n## Evidence (references)\nDerived 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.\n- 1974. Neuronal ceroid-lipofuscin storage in Siamese cats. Canadian Journal of Comparative Medicine and Veterinary Science — PubMed:PMID4132965 — OMIA Phene_Article / Article\n- 1993. Systemic Ceroid-Lipofuscinosis in a Japanese Domestic Cat. Journal of Veterinary Medical Science — PubMed:PMID8286538 — OMIA Phene_Article / Article\n- 1995. Neuronal ceroid-lipofuscinosis in a cat. Veterinary Pathology — PubMed:PMID8578638 — OMIA Phene_Article / Article\n- 1997. Neuronal ceroid-lipofuscinosis in a domestic cat: clinical, morphological and immunohistochemical findings. J Comp Pathol — PubMed:PMID9263841 | DOI:10.1016/s0021-9975(97)80063-1 — OMIA Phene_Article / Article\n- 2012. Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease. Vet J — PubMed:PMID22627044 | DOI:10.1016/j.tvjl.2012.04.025 — OMIA Phene_Article / Article\n- 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\n- 2009. Neuronal ceroid-lipofuscinosis in a Japanese domestic shorthair cat. J Vet Med Sci — PubMed:PMID19498297 | DOI:10.1292/jvms.71.665 — OMIA Phene_Article / Article\n- 2014. Characterization of neuronal ceroid-lipofuscinosis in 3 cats. Vet Pathol — PubMed:PMID24026940 | DOI:10.1177/0300985813502818 — OMIA Phene_Article / Article\n","sources":["companion-species-health — Cat (Felis catus) — neuronal ceroid lipofuscinosis (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — neuronal ceroid lipofuscinosis (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/4132965/","retrieved":"","ref":"PMID 4132965","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1336,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}