Bernese Mountain Dog — Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_bernese_mountain_dog_fibrinoid_leukodystrophy_fibrinoid_encephalomyelopathy_dog category: companion-breed-health title: "Bernese Mountain Dog — Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy (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/bernese_mountain_dog_fibrinoid_leukodystrophy_fibrinoid_encephalomyelopathy_2074.txt date_parsed: 2026-08-02 tokens_estimated: 646 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_bernese_mountain_dog_fibrinoid_leukodystrophy_fibrinoid_encephalomyelopathy_dog/01_companion_breed_health_bernese_mountain_dog_fibrinoid_leukodystrophy_fibrinoid_encephalomyelopathy_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: "Bernese Mountain Dog — Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001208/9615/" 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

Bernese Mountain Dog — Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy (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: Bernese Mountain Dog (Dog)
• Disorder: Fibrinoid leukodystrophy, fibrinoid encephalomyelopathy
• Mode of inheritance: Autosomal dominant
• Clin feat: Alexander disease is a progressive fatal neurodegenerative disease. The observed cases have been found in younger dogs, usually lt;12 months of age (Wrzosek et al., 2015). Early signs may begin as incoordination, a head tilt, knuckling on limbs, issues with balance, nystagmus and an aversion to touch (Wrzosek et al., 2015). As the disease progresses clinical features are ataxia and paresis in the hindlimbs (Kobatake et al., 2020) and in later stages tetraparesis (Van Poucke et al., 2016). Some patients may experience spastic front limbs along with vestibular signs (e.g., head tilt, strabismus) and myoclonic jerks of the head and cervical regions (Van Poucke et al., 2016). Generalised muscle atrophy, stiffness, regurgitation, increasing difficulty in swallowing and changes in vocalisation can be observed (Van Poucke et al., 2016; Kobatake et al., 2020). [IT thanks DVM students Bri Pepper and Carmen Tu for contributions to this entry in April 2022]
• Defect: yes
• Pathology: Blood examinations reveal no remarkable changes for both complete blood counts and serum biochemistry (Wrzosek et al., 2015, Kobatake et al., 2020). Gross pathological changes are not always obvious in all cases (Wrzosek et al., 2015; Van Poucke et al., 2016), but can include diffuse atrophy of brain and spinal cord (Kobatake et al., 2020), discoloured foci in the brain and spinal cord (Ito et al., 2010) and lateral ventricle enlargement (Alemañ et al., 2006; Weissenböck et al., 1996). Histopathological examination reveals eosinophilic round, club-shaped or elongated deposits that are consistent with Rosenthal fibers (eosinophilic corkscrew bundles), occurring in the astrocytes throughout the central nervous system (Weissenböck et al., 1996; Alemañ et al., 2006; Van Poucke et al., 2016). The Rosenthal fibers are immunopositive for glial fibrillary acidic protein (GFAP). The astrocytes also present with large nuclei, prominent nucleoli, and a glassy eosinophilic cytoplasm (Wrzosek et al., 2015; Van Poucke et al., 2016) and are often distributed around blood vessels in the white matter, beneath the pia matter and subependymal areas (Alemañ et al., 2006; Van Poucke et al., 2016). Demyelination in the brain may or may not be present (Alemañ et al., 2006). [IT thanks DVM students Bri Pepper and Carmen Tu for contributions to this entry in April 2022]

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 388248020 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Van Poucke et al. (2016): "c.719G&gt;A nucleotide substitution resulting in a p.Arg240His substitution was considered to be causal, because it is orthologous to the heterozygous de novo dominant c.716G&gt;A (p.Arg239His) hotspot variant in man, proven to cause a severe phenotype. In addition, the variant was not found in 50 unrelated healthy Labrador retrievers."

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.

• 1996. Alexander's disease in a Bernese mountain dog. Acta Neuropathol — PubMed:PMID8787155 | DOI:10.1007/s004010050414 — OMIA Phene_Article / Article
• 1986. Myeloencephalopathy resembling Alexander's disease in a Scottish terrier dog. Acta Neuropathol — PubMed:PMID3776469 | DOI:10.1007/BF00687980 — OMIA Phene_Article / Article
• 2006. Rosenthal fiber encephalopathy in a dog resembling Alexander disease in humans. Vet Pathol — PubMed:PMID17099166 | DOI:10.1354/vp.43-6-1025 — OMIA Phene_Article / Article
• 2010. Fibrinoid leukodystrophy (Alexander's disease-like disorder) in a young adult French bulldog. J Vet Med Sci — PubMed:PMID20526046 | DOI:10.1292/jvms.10-0085 — OMIA Phene_Article / Article
• 2016. A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. Eur J Hum Genet — PubMed:PMID26486469 | DOI:10.1038/ejhg.2015.223 — OMIA Phene_Article / Article
• 2020. Long-term survival of a dog with Alexander disease. J Vet Med Sci — PubMed:PMID33055453 | DOI:10.1292/jvms.20-0133 — OMIA Phene_Article / Article
• 2015. Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature. BMC Vet Res — PubMed:PMID25985984 | DOI:10.1186/s12917-015-0393-x — OMIA Phene_Article / Article
• 1991. Myeloencephalopathy with Rosenthal fiber formation in a miniature poodle. Vet Pathol — PubMed:PMID1771743 | DOI:10.1177/030098589102800612 — OMIA Phene_Article / Article
• 2010. Morbus Alexander – 4 Fälle bei Hunden in Österreich. Wien. Tierärztl. Mschr. — OMIA Phene_Article / Article
• 2016. A Labrador Retriever diagnosed with Alexander’s disease and the identification of the causal GFAP mutation. J Comp Pathol — DOI:doi.org/10.1016/j.jcpa.2015.10.072 — OMIA Phene_Article / Article
• 2023. Diagnostic features of type II fibrinoid leukodystrophy (Alexander disease) in a juvenile Beagle dog. J Vet Intern Med — PubMed:PMID36799664 | DOI:10.1111/jvim.16655 — 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
• (1 additional references in OMIA)

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:203450 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:137780 (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."