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Objective: Patients with Unverricht-Lundborg disease/EPM1 develop increasing locomotory disability or ataxia in the course of their disease. To test our hypothesis that negative myoclonus is the reason for this increasing ataxia, we investigated a possible correlation over time.

Methods: In 15 patients with EPM1who were confirmed to have a mutation in the CSTB gene, polygraphic video-EEG-EMG recordings were performed in freely moving or standing patients. The criterion for the duration of the negative myoclonus was the measured length of the silent periods on the EMG.

Results: All 15 patients had documented negative myoclonus when standing and walking. The mean duration of silent periods significantly increased from 100 (SD: 19.1) ms at time point T1 to 128 (SD: 26.6) ms at T2 in seven of eight patients, based on two recordings and a mean interval of 12.8 (SD: 4.9) years. Using a cross-sectional approach, all 15 patients were classified based on whether they were ambulatory, could walk with aid, or needed a wheelchair. Ambulatory patients had a mean duration of 97.3 (SD: 16.5) ms, patients who could walk with aid had a mean duration of 106.7 (SD: 16) ms, and patients who were wheelchair-bound had a mean duration of 138 (SD: 23.6) ms. In addition to the prolongation of the silent periods, there was an observed increase in frequency of the negative myoclonus, becoming more continuous and tremulous.

Significance: Using simultaneous EEG/EMG recordings in freely moving or standing patients, we have shown that the locomotor disability or ataxia is due to negative myoclonus in voluntary innervated muscles. The reason for the progression is the prolongation of the silent periods as measured by the duration of the negative myoclonus and their increase in frequency.

Titel:	Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.
Autor/in / Beteiligte Person:	Vogt, H ; Baisch, T ; Mueller-Pfeiffer, C ; Mothersill, IW
Link:	Zum Volltext
Zeitschrift:	Epileptic disorders : international epilepsy journal with videotape, Jg. 25 (2023-06-01), Heft 3, S. 297-308
Veröffentlichung:	2023- : [Hoboken] : Wiley ; <i>Original Publication</i>: Montrouge, France : John Libbey Eurotext, 2023
Medientyp:	academicJournal
ISSN:	1950-6945 (electronic)
DOI:	10.1002/epd2.20017
Schlagwort:	Humans Mutation Ataxia Cystatin B genetics Unverricht-Lundborg Syndrome genetics Myoclonus
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Epileptic Disord] 2023 Jun; Vol. 25 (3), pp. 297-308. <i>Date of Electronic Publication: </i>2023 May 22. MeSH Terms: Unverricht-Lundborg Syndrome* / genetics ; Myoclonus* ; Humans ; Mutation ; Ataxia ; Cystatin B / genetics References: Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. Clinical picture of EPM1‐Unverricht‐Lundborg disease. Epilepsia. 2008;49(4):549–56. ; Crespel A, Ferlazzo E, Franceschetti S, Genton P, Gouider R, Kälviäinen R, et al. Unverricht‐Lundborg disease. Epileptic Disord. 2016;18(S2):28–37. ; Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand. 1974;50(3):307–32. ; Sipilä JOT, Hyppönen J, Kytö V, Kälviäinen R. Unverricht‐Lundborg disease (EPM1) in Finland: a nationwide population‐based study. Neurology. 2020;95(23):e3117–23. ; Magaudda A, Ferlazzo E, Nguyen VH, Genton P. Unverricht‐Lundborg disease, a condition with self‐limited progression: long‐term follow‐up of 20 patients. Epilepsia. 2006;47(5):860–6. ; Ferlazzo E, Magaudda A, Striano P, Vi‐Hong N, Serra S, Genton P. Long‐term evolution of EEG in Unverricht‐Lundborg disease. Epilepsy Res. 2007;73(3):219–27. ; Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, et al. Variable course of Unverricht‐Lundborg disease: early prognostic factors. Neurology. 2017;89(16):1691–7. ; De Haan GJ, Halley DJJ, Doelman JC, Geesink HH, Augustijn PB, Jager‐Jongkind AD, et al. Univerricht‐Lundborg disease: underdiagnosed in The Netherlands. Epilepsia. 2004;45(9):1061–3. ; Chew NK, Mir P, Edwards MJ, Cordivari C, Martino D, Schneider SA, et al. The natural history of Unverricht‐Lundborg disease: a report of eight genetically proven cases: the natural history of ULD. Mov Disord. 2008;23(1):107–13. ; Vogt H, Mothersill IW. Epileptic and non‐epileptic negative myoclonus in patients with progressive myoclonus epilepsies. Epilepsia. 1995;36(S4):116. ; Adams R, Foley J. The neurological changes in the more common types of severe liver disease. Trans Am Neurol Assoc. 1949;74:217–9. ; Lance JW, Adams RD. The syndrome of intention or action myoclonus as a sequel to hypoxic encephalopathy. Brain. 1963;86(1):111–36. ; Shahani BT, Young RR. Physiological and pharmacological aids in the differential diagnosis of tremor. J Neurol Neurosurg Psychiatry. 1976;39(8):772–83. ; Tassinari CA, Regis H, Gastaut H. A particular form of muscular inhibition in epilepsy: the related epileptic silent period (R.E.S.P.). Proc Aust Assoc Neurol. 1968;5(3):595–602. ; Tassinari CA, Rubboli G, Parmeggiani L, Valzania F, Plasmati R, Riguzzi P, et al. Epileptic negative myoclonus. In: Fahn S, Hallett M, Lüders HO, Marsden CB, editors. Advances in neurology. Volume 67. Philadelphia: Lippincot‐Raven; 1995. p. 181–97. ; Rubboli G, Tassinari CA. Negative myoclonus. An overview of its clinical features, pathophysiological mechanisms, and management. Neurophysiol Clin Neurophysiol. 2006;36(5–6):337–43. ; Guerrini R, Dravet C, Genton P, Bureau M, Roger J, Rubboli G, et al. Epileptic negative myoclonus. Neurology. 1993;43(6):1078. ; Beniczky S, Tatum WO, Blumenfeld H, Stefan H, Mani J, Maillard L, et al. Seizure semiology: ILAE glossary of terms and their significance. Epileptic Disord. 2022;24(3):447–95. ; Obeso JA, Artieda J, Burleigh A. Clinical aspects of negative myoclonus. In: Fahn S, Hallett M, Lüders HO, Marsden CB, editors. Negative motor phenomena. Advances in neurology. Volume 67. Philadelphia: Lippincot‐Raven; 1995. p. 1–7. ; Mothersill IW, Hilfiker P, Kramer G. Twenty years of ictal EEG‐EMG. Epilepsia. 2000;41(S3):19–23. ; Eldridge R, Iivanainen M, Stern R, Koerber T, Wilder BJ. “Baltic” myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Lancet. 1983;322(8354):838–42. ; NASA. Motion of free‐falling object. www.grc.nasa.gov/WWW/K‐12/airplane/mofall.html. ; Shibasaki H, Ikeda A, Nagamine T, Mima T, Terada K, Nishitani N, et al. Cortical reflex negative myoclonus. Brain. 1994;117(3):477–86. ; Shibasaki H. Physiology of negative myoclonus. In: Fahn S, Frucht J, Hallett M, Truong D, editors. Myoclonus and paroxysmal dyskinesias. Advances in neurology. Volume 89. Philadelphia: Lippincot ‐ Raven; 2002. p. 103–13. ; Danner N, Julkunen P, Khyuppenen J, Hukkanen T, Könönen M, Säisänen L, et al. Altered cortical inhibition in Unverricht‐Lundborg type progressive myoclonus epilepsy (EPM1). Epilepsy Res. 2009;85(1):1–88. ; Ganos C, Kassavetis P, Erro R, Edwards MJ, Rothwell J, Bhatia KP. The role of the cerebellum in the pathogenesis of cortical myoclonus. Mov Disord. 2014;29(4):437–43. ; van der Veen S, Zutt R, Becker CE, Elting JWJ, De Koning TJ, Tijssen MAJ. Progressive myoclonus ataxia time for a new definition? Mov Disord. 2018;33(8):1281–6. ; Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol. 1990;28(1):113–6. Contributed Indexing: Keywords: Aetiology: Genetic disorder; EPM1/Unverricht‐Lundborg disease; Localization: Innervated muscle groups; Phenomenology: Negative myoclonus, teetering/bouncing gait, standing instability; Syndrome: EPM1/Unverricht Lundborg disease; ataxia; locomotory disability (LMD); negative myoclonus (NM); progressive myoclonus epilepsy (PME); silent period (SP) Substance Nomenclature: 88844-95-5 (Cystatin B) Entry Date(s): Date Created: 20230803 Date Completed: 20230807 Latest Revision: 20230807 Update Code: 20231215

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Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.