Matches in SemOpenAlex for { <https://semopenalex.org/work/W2740876568> ?p ?o ?g. }
- W2740876568 endingPage "e0182024" @default.
- W2740876568 startingPage "e0182024" @default.
- W2740876568 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." @default.
- W2740876568 created "2017-08-08" @default.
- W2740876568 creator A5024982046 @default.
- W2740876568 creator A5044622322 @default.
- W2740876568 creator A5048445352 @default.
- W2740876568 creator A5063355829 @default.
- W2740876568 creator A5066860166 @default.
- W2740876568 creator A5077542473 @default.
- W2740876568 creator A5079721897 @default.
- W2740876568 creator A5083168999 @default.
- W2740876568 date "2017-08-02" @default.
- W2740876568 modified "2023-10-18" @default.
- W2740876568 title "Lafora disease in miniature Wirehaired Dachshunds" @default.
- W2740876568 cites W111103290 @default.
- W2740876568 cites W1125551621 @default.
- W2740876568 cites W1434389346 @default.
- W2740876568 cites W1591503074 @default.
- W2740876568 cites W16453438 @default.
- W2740876568 cites W1790851576 @default.
- W2740876568 cites W1905138928 @default.
- W2740876568 cites W1965827383 @default.
- W2740876568 cites W1981295623 @default.
- W2740876568 cites W1983314236 @default.
- W2740876568 cites W1991664614 @default.
- W2740876568 cites W1993585175 @default.
- W2740876568 cites W1994475975 @default.
- W2740876568 cites W1994664800 @default.
- W2740876568 cites W2013561313 @default.
- W2740876568 cites W2025046694 @default.
- W2740876568 cites W2026837980 @default.
- W2740876568 cites W2047454765 @default.
- W2740876568 cites W2050647614 @default.
- W2740876568 cites W2053200073 @default.
- W2740876568 cites W2057334342 @default.
- W2740876568 cites W2064356181 @default.
- W2740876568 cites W2070023995 @default.
- W2740876568 cites W2077572015 @default.
- W2740876568 cites W2081478832 @default.
- W2740876568 cites W2084008782 @default.
- W2740876568 cites W2088150489 @default.
- W2740876568 cites W2091781300 @default.
- W2740876568 cites W2094354735 @default.
- W2740876568 cites W2109015289 @default.
- W2740876568 cites W2138804094 @default.
- W2740876568 cites W2163811257 @default.
- W2740876568 cites W2170294600 @default.
- W2740876568 cites W2419260820 @default.
- W2740876568 cites W2532054168 @default.
- W2740876568 cites W4253524409 @default.
- W2740876568 cites W4285719527 @default.
- W2740876568 doi "https://doi.org/10.1371/journal.pone.0182024" @default.
- W2740876568 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5540395" @default.
- W2740876568 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28767715" @default.
- W2740876568 hasPublicationYear "2017" @default.
- W2740876568 type Work @default.
- W2740876568 sameAs 2740876568 @default.
- W2740876568 citedByCount "20" @default.
- W2740876568 countsByYear W27408765682018 @default.
- W2740876568 countsByYear W27408765682019 @default.
- W2740876568 countsByYear W27408765682020 @default.
- W2740876568 countsByYear W27408765682021 @default.
- W2740876568 countsByYear W27408765682022 @default.
- W2740876568 countsByYear W27408765682023 @default.
- W2740876568 crossrefType "journal-article" @default.
- W2740876568 hasAuthorship W2740876568A5024982046 @default.
- W2740876568 hasAuthorship W2740876568A5044622322 @default.
- W2740876568 hasAuthorship W2740876568A5048445352 @default.
- W2740876568 hasAuthorship W2740876568A5063355829 @default.
- W2740876568 hasAuthorship W2740876568A5066860166 @default.
- W2740876568 hasAuthorship W2740876568A5077542473 @default.
- W2740876568 hasAuthorship W2740876568A5079721897 @default.
- W2740876568 hasAuthorship W2740876568A5083168999 @default.
- W2740876568 hasBestOaLocation W27408765681 @default.
- W2740876568 hasConcept C118552586 @default.
- W2740876568 hasConcept C126322002 @default.
- W2740876568 hasConcept C187212893 @default.
- W2740876568 hasConcept C2776538686 @default.
- W2740876568 hasConcept C2778186239 @default.
- W2740876568 hasConcept C2781467325 @default.
- W2740876568 hasConcept C2910982124 @default.
- W2740876568 hasConcept C42219234 @default.
- W2740876568 hasConcept C71924100 @default.
- W2740876568 hasConceptScore W2740876568C118552586 @default.
- W2740876568 hasConceptScore W2740876568C126322002 @default.
- W2740876568 hasConceptScore W2740876568C187212893 @default.
- W2740876568 hasConceptScore W2740876568C2776538686 @default.
- W2740876568 hasConceptScore W2740876568C2778186239 @default.
- W2740876568 hasConceptScore W2740876568C2781467325 @default.
- W2740876568 hasConceptScore W2740876568C2910982124 @default.
- W2740876568 hasConceptScore W2740876568C42219234 @default.
- W2740876568 hasConceptScore W2740876568C71924100 @default.
- W2740876568 hasFunder F4320337359 @default.
- W2740876568 hasIssue "8" @default.
- W2740876568 hasLocation W27408765681 @default.
- W2740876568 hasLocation W27408765682 @default.
- W2740876568 hasLocation W27408765683 @default.
- W2740876568 hasLocation W27408765684 @default.
- W2740876568 hasLocation W27408765685 @default.