Lafora disease in miniature Wirehaired Dachshunds.

Swain, L, Key, G, Tauro, A, Ahonen, S, Wang, P, Ackerley, C, Minassian, BA and Rusbridge, Clare (2017) Lafora disease in miniature Wirehaired Dachshunds. PLoS ONE, 12 (8), e0182024..

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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 breed-wide testing suggests that the carrier plus affected rate may be as high as 20%. A characteristic feature of the disease is spontaneous and reflex myoclonus; however clinical signs and disease progression are not well described. A survey was submitted to owners of MWHD which were homozygous for Epm2b mutation (breed club testing program) or had late onset reflex myoclonus and clinical diagnosis of LD. There were 27 dogs (11 male; 16 female) for analysis after young mutation-positive dogs that had yet to develop disease were excluded. Average age of onset of clinical signs was 6.94 years (3.5–12). The most common initial presenting sign was reflex and spontaneous myoclonus (77.8%). Other presenting signs included hypnic myoclonus (51.9%) and generalized seizures (40.7%). Less common presenting signs include focal seizures, “jaw smacking”, “fly catching”, “panic attacks”, impaired vision, aggression and urinary incontinence. All these clinical signs may appear, and then increase in frequency and intensity over time. The myoclonus in particular becomes more severe and more refractory to treatment. Signs that developed later in the disease include dementia (51.9%), blindness (48.1%), aggression to people (25.9%) and dogs (33.3%), deafness (29.6%) and fecal (29.6%) and urinary (37.0%) incontinence as a result of loss of house training (disinhibited type behavior). Further prospective study is needed to further characterize the canine disease and to allow more specific therapeutic strategies and to tailor therapy as the disease progresses.

Item Type:	Article
Divisions :	Faculty of Health and Medical Sciences > School of Veterinary Medicine
Authors :	Name Email ORCID Swain, L Key, G Tauro, A Ahonen, S Wang, P Ackerley, C Minassian, BA Rusbridge, Clare c.rusbridge@surrey.ac.uk
Date :	2 August 2017
DOI :	10.1371/journal.pone.0182024
Copyright Disclaimer :	Copyright: © 2017 Swain et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Depositing User :	Melanie Hughes
Date Deposited :	05 Dec 2017 10:39
Last Modified :	16 Jan 2019 19:05
URI:	http://epubs.surrey.ac.uk/id/eprint/845105

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