A 7-month-old Belgian Malinois puppy was presented for progressively worsening ataxia and episodes of aggression. General physical examination was unremarkable, and neurological examination revealed ambulatory tetraparesis, spinocerebellar ataxia, thoracic limb pseudo-hypermetria, exaggerated head movements, bilateral vestibular signs and a bilateral divergent strabismus....
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change — this veterinary genetics study has no direct relevance to audiology clinical practice.
While NECAP1 gene variants in animals have no established audiology relevance, canine genetic studies occasionally inform understanding of analogous human neurological pathways, though no such link is demonstrated here.
- 01A NECAP1 nonsense variant was identified as the likely cause of leukoencephalomyelopathy (a brain and spinal cord white-matter disease) in a Belgian Malinois.
- 02Published in Animal Genetics (PMID 42366163).
- 03The study concerns spinocerebellar ataxia (loss of coordinated movement) in a single dog breed.
- 04No audiology or hearing-related findings are reported.
- 05Relevance to human hearing science is absent based on available information.
A NECAP1 nonsense variant is associated with leukoencephalomyelopathy with oligodendroglial dysplasia in a Belgian Malinois with spinocerebellar ataxia.
studysupported- PMID
- 42366163
- DOI
- 10.1002/age.70156.
- Journal
- Animal Genetics
- Publication type
- research_article
- Evidence level
- 4
- Sample size
- 1
- Population
- Belgian Malinois dog with spinocerebellar ataxia
- Intervention
- Genetic sequencing to identify NECAP1 nonsense variant
Primary outcomes
Identification of NECAP1 nonsense variant associated with leukoencephalomyelopathy and oligodendroglial dysplasia