{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T18:14:08Z","timestamp":1782497648462,"version":"3.54.5"},"reference-count":16,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tierarztl Prax Ausg K Kleintiere Heimtiere"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Die Lafora-Erkrankung ist eine autosomal-rezessiv vererbte lysosomale Speicherkrankheit, bei der es zur Akkumulation neurotoxischer Glykogenprodukte \u00fcberwiegend in Zellen des zentralen Nervensystems, aber auch anderer Organe kommt. Symptome in Form einer progressiven myoklonischen Epilepsie treten typischerweise um das 7.\u2005Lebensjahr auf. Eine urs\u00e4chliche Therapie ist nicht m\u00f6glich, zumindest anf\u00e4nglich k\u00f6nnen die Symptome mit modernen Antiepileptika vermindert werden. Im vorliegenden Fall zeigte ein ca. 7-j\u00e4hriger Beagle tagesformabh\u00e4ngige Faszikulationen, fokale und generalisierte Myoklonien bis hin zum kurzen tonisch-klonischen Krampfanfall. Die Symptomatik lie\u00df sich durch Stress, Ger\u00e4usche und Licht ausl\u00f6sen und verst\u00e4rken. Zur Sicherung der klinischen Diagnose einer Lafora-Erkrankung wurden Proben aus Haut-, Leber-, Muskel- und Nervengewebe entnommen. In den Muskelbioptaten gelang der Nachweis der Lafora-typischen sarkoplasmatisch PAS-positiven, scholligen Ablagerungen. In den Bioptaten der anderen Gewebe fehlten die typischen Einschl\u00fcsse. Eine anf\u00e4ngliche Therapie mit Phenobarbital und Imepitoin war erfolglos. Durch die Therapie mit Levetiracetam konnten die klinischen Symptome deutlich reduziert werden. Zum Zeitpunkt der Manuskripterstellung, 2\u2005Jahre nach Diagnosestellung, wies der 9-j\u00e4hrige Hund gelegentliche, stressinduziert geh\u00e4ufte fokale Myoklonien auf. Zu einem Kollaps mit Seitenlage oder einem tonisch-klonischen Krampfanfall kam es nicht mehr.<\/jats:p>","DOI":"10.1055\/a-1238-0630","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T22:37:46Z","timestamp":1603319866000},"page":"361-364","source":"Crossref","is-referenced-by-count":4,"title":["Lafora-Erkrankung bei einem Beagle \u2013 Diagnose und Therapie"],"prefix":"10.1055","volume":"48","author":[{"given":"Karin","family":"Bart","sequence":"additional","affiliation":[{"name":"Tierheim Berlin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Kershaw","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Tierpathologie, Fachbereich Veterin\u00e4rmedizin, Freie Universit\u00e4t Berlin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achim D.","family":"Gruber","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Tierpathologie, Fachbereich Veterin\u00e4rmedizin, Freie Universit\u00e4t Berlin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Deutschland","sequence":"additional","affiliation":[{"name":"Neurologische \u00dcberweisungspraxis"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,10,21]]},"reference":[{"issue":"08","key":"ref1","doi-asserted-by":"crossref","first-page":"e0182024","DOI":"10.1371\/journal.pone.0182024","article-title":"Lafora disease in miniature Wirehaired Dachshunds","volume":"12","author":"L Swain","year":"2017","journal-title":"PLoS ONE"},{"key":"ref2","first-page":"290","article-title":"Lafora-Erkrankung (progressive Myoklonusepilepsie) beim Bassethund \u2013 M\u00f6glichkeit der Fr\u00fcherkennung mittels Muskelbiopsie?","volume":"19","author":"E Kaiser","year":"1991","journal-title":"Tierarztl Prax"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1111\/j.1751-0813.1990.tb07754.x","article-title":"Lafora\u2019s disease in a dog","volume":"67","author":"K E Davis","year":"1990","journal-title":"Aust Vet J"},{"key":"ref4","first-page":"493","volume-title":"Neuronal glycoproteinosis (Lafora\u2019s disease) in the dog","author":"D L Whitenack","year":"1978"},{"key":"ref5","first-page":"518","article-title":"Canine neuronal glycoproteinosis \u2013 Lafora\u2018s disease in the dog","volume":"12","author":"P K Cusick","year":"1976","journal-title":"J\u202fAm Anim Hosp Assoc"},{"key":"ref6","first-page":"509","article-title":"Lafora\u2019s disease in the dog. A comparative study","volume":"58","author":"J M Holland","year":"1970","journal-title":"Am J Pathol"},{"issue":"02","key":"ref7","doi-asserted-by":"publisher","first-page":"0","DOI":"10.1186\/s40575\u2013018\u20130058\u20138","article-title":"Nationwide genetic testing towards eliminating lafora disease from miniature wirehaired dachshunds in the United Kingdom","volume":"5","author":"S Ahonen","year":"2018","journal-title":"Canine Genetics and Epidemiology"},{"issue":"04","key":"ref8","first-page":"979","article-title":"Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia","volume":"31","author":"M Lowrie","year":"2017","journal-title":"J\u202fVet Intern Med"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1111\/jsap.12593","article-title":"NHLRC1 repeat expansion in two beagles with Lafora disease","volume":"57","author":"I Hajek","year":"2016","journal-title":"J\u202fSmall Anim Pract"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1126\/science.1102832","article-title":"Expandet Repeat in Canine Epilepsy","volume":"307","author":"H Lohi","year":"2005","journal-title":"Science"},{"issue":"05","key":"ref11","first-page":"1202","article-title":"Inherited progressive epilepsy of the dog with comparisons to Lafora\u2019s disease of man","volume":"35","author":"G A Hegreberg","year":"1976","journal-title":"Fed Proc"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1111\/j.1748-5827.2003.tb00113.x","article-title":"Progressive myoclonus epilepsy in a beagle","volume":"44","author":"H Gredal","year":"2003","journal-title":"J\u202fSmall Anim Pract"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1007\/BF00314784","article-title":"Early detection of skin and muscular involvement in lafora disease","volume":"238","author":"S Iannaccone","year":"1991","journal-title":"J\u202fNeurol"},{"issue":"04","key":"ref14","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1002\/ana.410080412","article-title":"Lafora disease: diagnosis by liver biopsy","volume":"8","author":"R N Nishimura","year":"1980","journal-title":"Ann Neurol"},{"key":"ref15","first-page":"289","article-title":"Treatment of Lafora disease (inherited myoclonic epilepsy) in dogs","volume":"19","author":"C Rusbridge","year":"2005","journal-title":"J\u202fVet Intern Med"},{"key":"ref16","first-page":"1187","volume-title":"Plumb\u2019s Veterinary Drug Handbook","year":"2011","edition":"7th ed."}],"container-title":["Tier\u00e4rztliche Praxis Ausgabe K: Kleintiere \/ Heimtiere"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1238-0630.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T22:38:41Z","timestamp":1603319921000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1238-0630"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":16,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2020,10,21]]},"published-print":{"date-parts":[[2020,10]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1238-0630","relation":{},"ISSN":["1434-1239","2567-5842"],"issn-type":[{"value":"1434-1239","type":"print"},{"value":"2567-5842","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10]]}}}