NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease.
J Small Anim Pract
; 62(11): 1030-1032, 2021 11.
Article
in 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Lafora Disease
/
Dog Diseases
Type of study:
Prognostic_studies
Limits:
Animals
Language:
En
Journal:
J Small Anim Pract
Year:
2021
Document type:
Article
Affiliation country: