--- license: permission_granted topic_id: companion_breed_health_lagotto_romagnolo_lagotto_storage_disease_dog category: companion-breed-health title: "Lagotto Romagnolo — Lagotto storage disease (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/lagotto_romagnolo_lagotto_storage_disease_3762.txt date_parsed: 2026-08-02 tokens_estimated: 533 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_lagotto_romagnolo_lagotto_storage_disease_dog/01_companion_breed_health_lagotto_romagnolo_lagotto_storage_disease_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: "Lagotto Romagnolo — Lagotto storage disease (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001954/9615/" 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
Lagotto Romagnolo — Lagotto storage disease (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: Lagotto Romagnolo (Dog)Disorder: Lagotto storage diseaseMode of inheritance: Autosomal recessiveClin feat: As reported by Kyöstilä et al. (2015), The typical clinical presentation in affected dogs was progressive ataxia. Neurological examination revealed a mild to severe cerebellar ataxia . . . The majority of dogs had normal paw positioning responses when postural reactions were tested but showed delayed onset of correction in hopping reactions. Spinal reflexes were normal except for decreased or absent patellar reflexes in five dogs. Menace reaction was decreased in eight dogs, and exaggerated in one dog. Positional nystagmus was visible in four dogs during the eurological examination. Magnetic resonance imaging of the brain was performed in 11 affected dogs. The principal findings included signs of mild atrophy of the cerebellum in nine dogs and of the forebrain in six dogs. In five dogs, lateral ventricles were enlarged. A small corpus callosum was detected in three affected dogs when compared to age matched LRs. In two affected dogs, the brain imaging was unremarkable.Defect: yesPathology: As also reported by Kyöstilä et al. (2015), Histological examination revealed widespread swelling and clear vacuolization of the neuronal cytoplasm, diffusely affecting the central and peripheral nervous system. The cytoplasmic vacuolization varied from fine vesiculation to large confluent vacuoles. Syrjä et al. (2017) investigated the cellular alterations in detail and found that basal, but not induced autophagy, is altered in homozygous mutant cells from affected dogs. In a study aimed to clarify the origin of the limiting membrane of the accumulating vacuoles and determine whether altered basal autophagy affects the extracellular release of vesicles in cells from diseased dogs Syrjä et al. (2020) concluded that An increased release of extracellular vesicles may serve as a compensatory mechanism in disposal of intracellular proteins during dysfunctional basal autophagy in this spontaneous disease.
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 388251083 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Missense mutation: c.1288G>A; p.A430T; Chr20:50,618,958C>T (CanFam 3.1 assembly) (Kyöstilä et al., 2015)
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.
- 2015. A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. PLoS Genet — PubMed:PMID25875846 | DOI:10.1371/journal.pgen.1005169 — OMIA Phene_Article / Article
- 2017. Basal autophagy is altered in Lagotto Romagnolo dogs with an ATG4D mutation. Vet Pathol — PubMed:PMID28583040 | DOI:10.1177/0300985817712793 — OMIA Phene_Article / Article
- 2020. Altered basal autophagy affects extracellular vesicle release in cells of Lagotto Romagnolo dogs with a variant ATG4D. Vet Pathol — PubMed:PMID33016245 | DOI:10.1177/0300985820959243 — 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
- 2024. Last but not least: emerging roles of the autophagy-related protein ATG4D. Autophagy — PubMed:PMID38920354 | DOI:10.1080/15548627.2024.2369436 — 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:611340 (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."