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Lafora disease in miniature Wirehaired Dachshunds.

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.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title plos one
Publication Year Start




PMID- 28767715
OWN - NLM
STAT- MEDLINE
DA  - 20170802
DCOM- 20170829
LR  - 20170829
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 12
IP  - 8
DP  - 2017
TI  - Lafora disease in miniature Wirehaired Dachshunds.
PG  - e0182024
LID - 10.1371/journal.pone.0182024 [doi]
AB  - 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.
FAU - Swain, Lindsay
AU  - Swain L
AD  - Fitzpatrick Referrals Orthopedics and Neurology, Halfway Lane, Eashing,
      Godalming, Surrey, United Kingdom.
FAU - Key, Gill
AU  - Key G
AD  - Dachshund Breed Council, Wrington, North Somerset, United Kingdom.
FAU - Tauro, Anna
AU  - Tauro A
AD  - Fitzpatrick Referrals Orthopedics and Neurology, Halfway Lane, Eashing,
      Godalming, Surrey, United Kingdom.
FAU - Ahonen, Saija
AU  - Ahonen S
AD  - Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, 
      Canada.
FAU - Wang, Peixiang
AU  - Wang P
AD  - Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, 
      Canada.
FAU - Ackerley, Cameron
AU  - Ackerley C
AD  - Department of Pathology and Laboratory Medicine, The Hospital for Sick Children, 
      University of Toronto, Toronto, Canada.
FAU - Minassian, Berge A
AU  - Minassian BA
AD  - Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, 
      Canada.
AD  - Department of Pediatrics (Neurology), The Hospital for Sick Children, University 
      of Toronto, Toronto, Canada.
FAU - Rusbridge, Clare
AU  - Rusbridge C
AUID- ORCID: http://orcid.org/0000-0002-3366-2110
AD  - Fitzpatrick Referrals Orthopedics and Neurology, Halfway Lane, Eashing,
      Godalming, Surrey, United Kingdom.
AD  - School of Veterinary Medicine, Faculty of Health & Medical Sciences, University
      of Surrey, Guildford, Surrey, United Kingdom.
LA  - eng
PT  - Journal Article
DEP - 20170802
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
SB  - IM
MH  - Age of Onset
MH  - Animals
MH  - Disease Progression
MH  - Dog Diseases/genetics/*pathology/*psychology
MH  - Dogs
MH  - Female
MH  - Lafora Disease/genetics/pathology/psychology/*veterinary
MH  - Male
MH  - Mutation
MH  - Prospective Studies
MH  - Retrospective Studies
MH  - Ubiquitin-Protein Ligases/*genetics
PMC - PMC5540395
EDAT- 2017/08/03 06:00
MHDA- 2017/08/30 06:00
CRDT- 2017/08/03 06:00
PHST- 2016/12/15 [received]
PHST- 2017/07/11 [accepted]
AID - 10.1371/journal.pone.0182024 [doi]
AID - PONE-D-16-49561 [pii]
PST - epublish
SO  - PLoS One. 2017 Aug 2;12(8):e0182024. doi: 10.1371/journal.pone.0182024.
      eCollection 2017.