Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/age.12795 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Canine Lafora Disease: An Unstable Repeat Expansion Disorder.
Life (Basel)
July 2021
School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford GU2 7AL, UK.
Canine Lafora disease is a recessively inherited, rapidly progressing neurodegenerative disease caused by the accumulation of abnormally constructed insoluble glycogen Lafora bodies in the brain and other tissues due to the loss of NHL repeat containing E3 ubiquitin protein ligase 1 (). Dogs have a dodecamer repeat sequence within the gene, which is prone to unstable (dynamic) expansion and loss of function. Progressive signs of Lafora disease include hypnic jerks, reflex and spontaneous myoclonus, seizures, vision loss, ataxia and decreased cognitive function.
View Article and Find Full Text PDFNHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease.
J Small Anim Pract
November 2021
Laboklin GmbH&Co. KG, Bad Kissingen, 97688, Germany.
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.
View Article and Find Full Text PDFNHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease.
Anim Genet
August 2019
Laboklin, Bad Kissingen, Germany.
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease.
Anim Genet
February 2019
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.
Canine Genet Epidemiol
March 2018
1Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8 Canada.
Background: Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies. In addition, information obtained from testing of hundreds dogs in one breed gives valuable information about the breed-wide genotype frequency of disease associated allele. Lafora disease is a late onset, recessively inherited genetic disease which is diagnosed in Miniature Wirehaired Dachshunds (MWHD).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!