NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease.
J Small Anim Pract
; 62(11): 1030-1032, 2021 11.
Article
en En
| MEDLINE
| ID: mdl-34263924
ABSTRACT
Lafora disease is a genetic disease caused, in humans, by mutations in EPM2A and NHLRC1 genes, resulting in accumulation of polyglucosan bodies within neurons. Affected subjects present progressive neurological signs characterised primarily by myoclonic epilepsy. In dogs, Lafora disease has been described mainly in miniature wire-haired Dachshunds, where a dodecamer expansion in NHLRC1 gene has been identified. The same mutation has then been detected in the Basset Hound, Beagle, Chihuahua and Pembroke Welsh Corgi breeds. This is the first case of a Newfoundland dog with myoclonic epilepsy diagnosed with Lafora disease based on confirmed dodecamer expansion in the NHLRC1 gene. Lafora disease is being progressively recognised in different unrelated breeds suggesting a wider distribution in the canine population than previously thought.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enfermedad de Lafora
/
Enfermedades de los Perros
Tipo de estudio:
Prognostic_studies
Límite:
Animals
Idioma:
En
Revista:
J Small Anim Pract
Año:
2021
Tipo del documento:
Article
País de afiliación:
Italia