Unverricht-Lundborg disease (EPM1)
Pierre Genton,
Pierre Genton
Centre Saint Paul – Henri Gastaut, Marseille, France
Search for more papers by this authorPierre Genton,
Pierre Genton
Centre Saint Paul – Henri Gastaut, Marseille, France
Search for more papers by this authorAddress correspondence to Pierre Genton, MD, Centre Saint Paul – Henri Gastaut, 300 Boulevard de Sainte Marguerite, 13009 Marseille, France. E-mail: [email protected]
No abstract is available for this article.
References
- Alakurtti K, Weber E, Rinne R, Theil G, De Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE. (2005) Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet 13: 208–215.
- Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI. (2008) A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 83: 572–581.
- Berkovic S, Andermann F, Carpenter S, Andermann E, Wolfe LS. (1986) Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 315: 296–305.
- Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D’Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. (2005) Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol 252: 897–900.
- Danner N, Julkunen P, Khyuppenen J, Hukkanen T, Könönen M, Säisänen L, Koskenkorva P, Vanninen R, Lehesjoki AE, Kälviäinen R, Mervaala E. (2009) Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). Epilepsy Res 85: 81–88.
- De Haan GJ, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D. (2004) Univerricht-Lundborg disease: underdiagnosed in the Netherlands. Epilepsia 45: 1061–1063.
- Edwards MJ, Hargreaves IP, Heales SJ, Jones SJ, Ramachandran V, Bhatia KP, Sisodiya S. (2002) N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects. Neurology 59: 1447–1449.
- Ferlazzo E, Magaudda A, Striano P, Vi-Hong N, Serra S, Genton P. (2007) Long-term evolution of EEG in Unverricht-Lundborg disease. Epilepsy Res 73: 219–227.
- Ferlazzo E, Gagliano A, Calarese T, Magaudda A, Striano P, Cortese L, Cedro C, Laguitton V, Bramanti P, Carbonaro M, Albachiara A, Fragassi N, Italiano D, Sessa E, Coppola A, Genton P. (2009) Neuropsychological findings in patients with Unverricht-Lundborg disease. Epilepsy Behav 14: 545–549.
- Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, Frassoni C, Chikhladze M, Avanzini G, Simonato M. (2007) A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol Dis 25: 675–685.
- Genton P, Michelucci R, Tassinari CA, Roger J. (1990) The Ramsay hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged red fibers and Baltic myoclonus. Acta Neurol Scand 81: 8–15.
- Genton P, Malafosse A, Moulard B, Rogel-Ortiz F, Dravet C, Bureau M, Roger J. (2005) Progressive myoclonus epilepsies. In J Roger, M Bureau, Ch Dravet, P Genton, CA Tassinari, P Wolf (Eds) Epileptic syndromes in infancy, childhood and adolescence, 4th ed. John Libbey Eurotext, Paris, 441–465.
- Giovagnoli AR, Canafoglia L, Reati F, Raviglione F, Franceschetti S. (2009) The neuropsychological pattern of Unverricht-Lundborg disease. Epilepsy Res 84: 217–223.
- Korja M, Kaasinen V, Lamusuo S, Parkkola R, Någren K, Marttila RJ. (2007) Substantial thalamostriatal dopaminergic defect in Unverricht-Lundborg disease. Epilepsia 48: 1768–1773.
- Koskiniemi ML. (1986) Baltic myoclonus. In S Fahn, CD Marsden, M Van Woert (Eds) Myoclonus, vol. 23. Raven Press, New York, Advances in neurology, 57–64.
- Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE. (1997) Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 60: 342–351
- Lehesjoki AE, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, De La Chapelle A. (1991) Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 88: 3606–3699.
- Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki AE. (2009) Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. J Neurosci 29: 5910–5915.
- Lieuallen K, Pennacchio LA, Park M, Myers RM, Lennon GG. (2001) Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes. Hum Mol Genet 10: 1867–1871
- Lundborg H. (1903) Die progressive Myoclonusepilepsie (Unverricht’s Myoklonie). Almqvist and Wiskell, Uppsala.
- Magaudda A, Ferlazzo E, Nguyen VH, Genton P. (2006) Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 47: 860–866.
- Marseille Consensus Group. (1990) Classification of progressive myoclonus epilepsies and related diseases. Ann Neurol 28: 113–116.
- Moulard B, Darcel F, Mignard D, Jeanpierre M, Genton P, Cartault F, Yaouanq J, Roubertie A, Biraben A, Buresi C, Malafosse A. (2003) Founder effect in patients with Unverricht-Lundborg disease on reunion island. Epilepsia 44: 1357–1360.
- Unverricht H. (1891) Die myoclonie. Leipzig. Franz Deuticke, Wien.
