{"topic_id":"companion_species_health_spongy_encephalopathy_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_spongy_encephalopathy_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — spongy encephalopathy (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_spongy_encephalopathy_4484.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 387\nverification:\n method: substring_match\n claims: 6\n passed: 6\n date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_spongy_encephalopathy_cat/01_companion_species_health_spongy_encephalopathy_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) — spongy encephalopathy (hereditary; OMIA-verified species predisposition)\"\n url: \"https://omia.org/OMIA002325/9685/\"\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) — spongy encephalopathy (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: spongy encephalopathy`\n- `Mode of inheritance: Takaichi et al. (2021): "Four female mixed-breed cats exhibiting neurological signs consistent with intracranial disease were examined ... . These cats were bred in different regions in Japan and considered to be an unrelated pedigree."`\n- `Summary: A neurodegenerative syndrome in cats analogous to human Canavan disease.`\n- `Clin feat: Takaichi et al. (2021): \"clinical signs were gait disturbance and head tremors appearing between 1 and 19 months of age. Dysstasia, intension tremors, and seizures were present in the terminal stages, and the median age of death was 11 months ... . In MRI analyses, hypointense lesions on T1-weighted (T1W) images and hyperintense lesions on T2W images were detected in the cerebral cortex, hippocampus, cerebellum, and brain stem ... . The GC-MS [gas chromatography–mass spectrometry] analysis identified the aberrant excretion of NAA [N-acetylaspartate] in the urine\" of one affected cat.`\n- `Pathology: Takaichi et al. (2021): \"Postmortem analysis revealed vacuolar changes predominantly distributed in the gray matter of the cerebrum and brain stem as well as in the cerebellar Purkinje cell layer. Immunohistochemically, these vacuoles were surrounded by neurofilaments and sometimes contained MBP- and Olig2-positive cells. Ultrastructurally, a large number of intracytoplasmic vacuoles containing mitochondria and electron-dense granules were detected in the cerebral cortex.\"`\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/.txt source file.\n- Gene: Entrez Gene ID 389723715 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Takaichi et al. (2021) identified ASPA as a likely candidate gene based on clinical features. \"A single base substitution of guanine for cytosine (c.859G>C) [omia.variant:1309] in exon 6 was identified in all affected cats ... . This missense mutation is predicted to result in an amino acid substitution of a conserved alanine to proline (A287P). ... The mutation showed a SIFT score of …\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/.txt source file.\n- 2021. Feline spongy encephalopathy with a mutation in the ASPA gene. Vet Pathol — PubMed:PMID33779415 | DOI:10.1177/03009858211002176 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\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/.txt source file.\n- OMIM:271900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:608034 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Cat (Felis catus) — spongy encephalopathy (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — spongy encephalopathy (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/33779415/","retrieved":"","ref":"PMID 33779415","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":803,"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."}