Lafora disease
Lafora disease is a genetic disease caused, in humans, by mutations in EPM2A and NHLRC1 genes, resulting in accumulation of polyglucosan bodies within neurons. Affected subjects present progressive neurological signs characterised primarily by myoclonic epilepsy. In dogs, Lafora disease has been described mainly in miniature wire-haired Dachshunds, where a dodecamer expansion in NHLRC1 gene has been identified. The same mutation has then been detected in the Basset Hound, Beagle, Chihuahua and Pembroke Welsh Corgi breeds. This is the first case of a Newfoundland dog with myoclonic epilepsy diagnosed with Lafora disease based on confirmed dodecamer expansion in the NHLRC1 gene. Lafora disease is being progressively recognised in different unrelated breeds suggesting a wider distribution in the canine population than previously thought 1).
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2: Michelucci R, Pasini E, Riguzzi P, Andermann E, Kälviäinen R, Genton P. Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials. Epileptic Disord. 2016 Sep 1;18(S2):145-153. doi: 10.1684/epd.2016.0861. PMID: 27629998.
3: Lynch DS, Wood NW, Houlden H. Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. Neurol Genet. 2016 Aug 16;2(5):e101. doi: 10.1212/NXG.0000000000000101. PMID: 27574708; PMCID: PMC4988466.
4: Jara-Prado A, Ochoa A, Alonso ME, Lima Villeda GA, Fernández-Valverde F, Ruano-Calderón L, Vargas-Cañas S, Durón RM, Delgado-Escueta AV, Martínez-Juárez IE. Late onset Lafora disease and novel EPM2A mutations: breaking paradigms. Epilepsy Res. 2014 Nov;108(9):1501-10. doi: 10.1016/j.eplepsyres.2014.08.017. Epub 2014 Aug 30. Erratum in: Epilepsy Res. 2015 Feb;110:228. PMID: 25246353.
5: Hajnsek S, Petelin Gadze Z, Borovecki F, Nankovic S, Mrak G, Gotovac K, Sulentic V, Kovacevic I, Bujan Kovac A. Vagus nerve stimulation in Lafora body disease. Epilepsy Behav Case Rep. 2013 Sep 27;1:150-2. doi: 10.1016/j.ebcr.2013.08.002. PMID: 25667850; PMCID: PMC4150640.
6: Abel TJ, Hebb AO, Keene CD, Born DE, Silbergeld DL. Parahippocampal corpora amylacea: case report. Neurosurgery. 2010 Jun;66(6):E1206-7. doi: 10.1227/01.NEU.0000369196.94664.4E. PMID: 20495392.
7: Jansen AC, Andermann E. Progressive Myoclonus Epilepsy, Lafora Type. 2007 Dec 28 [updated 2019 Feb 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301563.
8: Footitt DR, Quinn N, Kocen RS, Oz B, Scaravilli F. Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature. J Neurol. 1997 Jan;244(1):40-4. doi: 10.1007/s004150050048. PMID: 9007744.
9: Cochius J, Carpenter S, Andermann E, Rouleau G, Nousiainen U, Kalviainen R, Farrell K, Andermann F. Sweat gland vacuoles in Unverricht-Lundborg disease: a clue to diagnosis? Neurology. 1994 Dec;44(12):2372-5. doi: 10.1212/wnl.44.12.2372. PMID: 7991128.