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Abstract

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...

Author(s)
Ahonen, S.; Seath, I.; Rusbridge, C.; Holt, S.; Key, G.; Wang, T.; Wang PeiXiang; Minassian, B. A.
Publisher
BioMed Central Ltd, London, UK
Citation
Canine Genetics and Epidemiology, 2018, 5, 2, pp (23 January 2018)
Abstract

Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies). Recent...

Author(s)
Swain, L.; Key, G.; Tauro, A.; Ahonen, S.; Wang PeiXiang; Ackerley, C.; Minassian, B. A.; Rusbridge, C.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS ONE, 2017, 12, 8, pp e0182024
Abstract

Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including ...

Author(s)
Hajek, I.; Kettner, F.; Simerdova, V.; Rusbridge, C.; Wang, P.; Minassian, B. A.; Palus, V.
Publisher
Wiley-Blackwell, Oxford, UK
Citation
Journal of Small Animal Practice, 2016, 57, 11, pp 650-652
Abstract

Canine Lafora disease (LD) is an autosomal recessive genetic disorder causing nonfatal structural epilepsy, mainly affecting miniature wirehaired dachshunds. Repeat expansion in the EPM2B gene causes a functional impairment of the ubiquitin ligase malin which regulates glycogen metabolism....

Author(s)
Chambers, J. K.; Thongtharb, A.; Shiga, T.; Azakami, D.; Saito, M.; Sato, M.; Morozumi, M.; Nakayama, H.; Uchida, K.
Publisher
Sage Publications, Thousand Oaks, USA
Citation
Veterinary Pathology, 2018, 55, 4, pp 543-551
Abstract

Cortical atrophy has been identified using magnetic resonance imaging (MRI) in humans and dogs with Lafora disease (LD). In humans, proton magnetic resonance spectroscopy (1HMRS) of the brain indicates decreased N -acetyl-aspartate (NAA) relative to other brain metabolites. Brain 1HMRS findings in ...

Author(s)
Alisauskaite, N.; Beckmann, K.; Dennler, M.; Zölch, N.
Publisher
Wiley, Boston, USA
Citation
Journal of Veterinary Internal Medicine, 2020, 34, 4, pp 1594-1598
Abstract

Canine Lafora disease is a genetic disorder of carbohydrate metabolism characterised by neurological signs and accumulation of a type of polyglucosan body (PGB), the Lafora body (LB), in the brain and other organs. Normal canine ageing is associated with accumulation of PGBs in the brain,...

Author(s)
Márquez, M.; Pérez, L.; Serafín, A.; Teijeira, S.; Navarro, C.; Pumarola, M.
Publisher
Elsevier B.V, Amsterdam, The Netherlands
Citation
Veterinary Journal, 2010, 183, 2, pp 222-225
Abstract

Author(s)
Maile, C.
Publisher
Veterinary Business Development Ltd, Peterborough, UK
Citation
Veterinary Times, 2018, 48, 13, pp 32-33
Abstract

This article discusses the launch of a full DNA screening programme for Lafora's disease (an inherited autosomal recessive condition caused by a mutation that encodes a protein involved with carbohydrate metabolism) in miniature wire-haired dachshunds of which about ten percent of this breed are...

Author(s)
Sainsbury, R.
Publisher
BMJ Publishing Group, London, UK
Citation
Veterinary Record, 2011, 169, 11, pp 292
Abstract

Author(s)
Takasaki, M.
Publisher
Nippon Veterinary and Life Science University, Tokyo, Japan
Citation
Bulletin of Nippon Veterinary and Life Science University, 2012, No.61, pp 152-153
Abstract

An 8-year-old, castrated male, miniature wire-haired dachshund was presented with a 4-month history of intermittent facial twitching (myoclonus). The myoclonic episodes progressed over a 16-month period. Generalized seizure activity was infrequent. Clinical examination revealed visually stimulated...

Author(s)
Webb, A. A.; McMillan, C.; Cullen, C. L.; Boston, S. E.; Turnbull, J.; Minassian, B. A.
Publisher
Canadian Veterinary Medical Association, Ottawa, Canada
Citation
Canadian Veterinary Journal, 2009, 50, 9, pp 963-967

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