Rottweiler — Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation; (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_rottweiler_neuronal_vacuolation_and_spinocerebellar_degeneration_polyne_dog category: companion-breed-health title: "Rottweiler — Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation; (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/rottweiler_neuronal_vacuolation_and_spinocerebellar_degeneration_polyne_3788.txt date_parsed: 2026-08-02 tokens_estimated: 962 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_rottweiler_neuronal_vacuolation_and_spinocerebellar_degeneration_polyne_dog/01_companion_breed_health_rottweiler_neuronal_vacuolation_and_spinocerebellar_degeneration_polyne_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: "Rottweiler — Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation; (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001970/9615/" 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

Rottweiler — Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation; (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: Rottweiler (Dog)
• Disorder: Neuronal vacuolation and spinocerebellar degeneration; Polyneuropathy, ocular abnormalities and neuronal vacuolation;
• Mode of inheritance: Autosomal recessive
• Clin feat: In Alaskan Huskies neurological signs start at 4 to 5 months of age with visual problems. Slightly later affected dogs display an altered voice due to laryngeal paralysis, regurgitation, and gait abnormalities progressing to a severe ataxia. Dogs are typically euthanized between 8 and 16 months of age. Affected dogs have bilateral microphthalmia, small pupils, and lenses with cataract. Some affected dogs additionally exhibit strabismus and/or persistent pupillary membranes (Wiedmer et al. 2015). The Black Russian Terriers presented slightly earlier than the Alaskan Huskies at 3 months of age with laryngeal paralysis and respiratory distress. They were all euthanized by 6 months of age for severe dyspnea (Mhlanga-Mutangadura et al. 2016 (Neurobiol. Dis.) and Dennis O'Brien, personal communication).
• Defect: yes
• Pathology: Neuropathological examinations in affected Alaskan Huskies showed bilaterally symmetrical chronic Wallerian-type axonal degeneration in the spinal cord, which was characterized by dilated myelin sheaths containing either axonal spheroids and fragments or myelinophages. Lesions were most prominent in the superficial dorsolateral white matter tracts of the cervical and thoracic segments, where they consisted of areas of axonal and myelin loss replaced by gliotic tissue. Additionally, widely spread, bilateral-symmetrical, subtle to severe neuronal vacuolation was present in the spinal cord grey matter, facial nucleus, gracile and cuneate nuclei, vestibular nuclei, cerebellar nuclei, oculomotor nuclei, substantia nigra, thalamic nuclei, hypothalamus, hippocampus and cortex. The vacuolation was characterized by the presence of one to multiple clearly defined vacuoles of varying size in the neuronal somata and was prominent in the cerebellar nuclei. Vacuoles were also observed in the surrounding neuropil, which contained scattered axonal spheroids and was gliotic. In the cerebellar cortex, mild to severe Purkinje cell degeneration and loss were observed, associated with cerebellar atrophy in one case. Scattered axonal spheroids were present in the granule cell layer. Mild vacuolation and scattered fragmented axons were observed in the white matter of the cerebellum and brainstem. Pathological prion protein deposition was absent. In muscle and peripheral nerve biopsies from affected Alaskan Huskies, a mild variability in myofiber size with scattered atrophic fibers having an angular to anguloid shape and of both fiber types was observed. Multifocal areas of type 1 fiber grouping were observed in one of three investigated dogs. Intramuscular nerve branches were mildly to moderately depleted of myelinated fibers. Large fiber loss was evident in the peroneal and vagus nerves resulting from axonal degeneration in two of three investigated dogs. Regenerative changes were not obvious, and the vagosympathetic nerve did not reveal any specific abnormalities (Wiedmer et al. 2015). The pathological alterations in POANV affected Black Russian Terriers were similar to those seen in Alaskan Huskies. Mhlanga-Mutangadura et al. (2016; Neurobiol. Dis.) additionally found vacuoles within axons in the peripheral nerves. In electron microscopy, Mhlanga-Mutangadura et al. (2016; Neurobiol. Dis.) showed that the vacuoles were membrane bound and contained scant fibrillary debris and occasional an electron dense core of material. They did not stain with oil red O which ruled out lipid droplets. In the Purkinje cells, there were numerous small vacuoles.

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 388244679 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Wiedmer et al. (2015) performed whole genome sequencing of a POANV affected Alaskan Husky. An initial automated small-scale variant analysis of the sequence data did not reveal a plausible candidate variant. Wiedmer et al. then visually inspected the short read alignments of the affected Alaskan Husky in the critical interval on chromosome 19 and identified a 218 bp SINE insertion into exon 7 of t…

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.

• 1997. Neuronal vacuolation and spinocerebellar degeneration in young rottweiler dogs. Veterinary Pathology — PubMed:PMID9240838 — OMIA Phene_Article / Article
• 1998. A neuronal vacuolar disorder in young rottweiler dogs. Veterinary Record — PubMed:PMID9549867 — OMIA Phene_Article / Article
• 1998. Neuronal vacuolation in young Rottweilers. Veterinary Record — OMIA Phene_Article / Article
• 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article
• 1998. The laryngeal lesion in young dogs with neuronal vacuolation and spinocerebellar degeneration. Vet Pathol — PubMed:PMID9684979 | DOI:10.1177/030098589803500414 — OMIA Phene_Article / Article
• 1998. Progressive tetraparesis and laryngeal paralysis in a young rottweiler with neuronal vacuolation and axonal degeneration: an Australian case. Aust Vet J — PubMed:PMID9862062 | DOI:10.1111/j.1751-0813.1998.tb12301.x — OMIA Phene_Article / Article
• 1999. Neuronal vacuolation in young Rottweiler dogs. Acta Neuropathol — PubMed:PMID9928831 | DOI:10.1007/s004010050973 — OMIA Phene_Article / Article
• 2015. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). G3 (Bethesda) — PubMed:PMID26596647 | DOI:10.1534/g3.115.022707 — OMIA Phene_Article / Article
• 2016. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis — PubMed:PMID26607784 | DOI:10.1016/j.nbd.2015.11.016 — OMIA Phene_Article / Article
• 2016. A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration. J Vet Intern Med — PubMed:PMID26968732 | DOI:10.1111/jvim.13921 — OMIA Phene_Article / Article
• 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — 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:600118 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:602536 (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."