Abstract
Several names (“Cortical Tremor” = Crt Tr, Familial Adult Myoclonic Epilepsy = FAME, Benign Adult Familial Myoclonic Epilepsy = BAFME, Autosomal Dominant Cortical Myoclonus and Epilepsy = ADCME, Familial Cortical Myoclonic Tremor = FCMT, Familial Cortical Tremor with Epilepsy = FCTE, Familial Essential Myoclonus and Epilepsy = FEME, Familial Benign Myoclonus Epilepsy of Adult onset = FMEA, Heredofamilial Tremor and Epilepsy = THE) have been used to define a unique entity, Familial Myoclonic Cortical Tremor with Epilepsy (FCMTE), as proposed by van Rootselaar et al. (2005). All patients with FCMTE criteria share clinical and electrophysiological features. In contrast, Familial Infantile Myoclonic Epilepsy (FIME) and Adult-onset Myoclonic Epilepsy (AME) cannot yet be considered as FMCTE (Striano et al. 2009a).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bour LJ, van Rootselaar AF, Koelman JH, Tijssen MA. Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6. Brain. 2008;131(Pt 9):2295–303.
Bourdain F, Apartis E, Trocello JM, Vidal JS, Masnou P, Vercueil L, Vidailhet M. Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor. Mov Disord. 2006;21(5):599–608.
Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007;68(17):1382–9.
Coppola A, Santulli L, Del Gaudio L, Minetti C, Striano S, Zara F, Striano P. Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy. Epilepsia. 2011;52(7):1245–50.
de Falco FA, Striano P, de Falco A, Striano S, Santangelo R, Perretti A, Balbi P, Cecconi M, Zara F. Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. Neurology. 2003;60(8):1381–5.
Deng FY, Gong J, Zhang YC, Wang K, Xiao SM, Li YN, Lei SF, Chen XD, Xiao B, Deng HW. Absence of linkage to 8q23.3-q24.1 and 2p11.1-q12.2 in a new BAFME pedigree in China: indication of a third locus for BAFME. Epilepsy Res. 2005;65(3):147–52.
Depienne C, Magnin E, Bouteiller D, Stevanin G, Saint-Martin C, Vidailhet M, Apartis E, Hirsch E, LeGuern E, Labauge P, Rumbach L. Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. Neurology. 2010;74(24):2000–3.
Elia M, Musumeci SA, Ferri R, Scuderi C, Del Gracco S, Bottitta M, Michelucci R, Tassinari CA. Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity? Arch Neurol. 1998;55(12):1569–73.
Gardella E, Tinuper P, Marini C, Guerrini R, Parrini E, Bisulli F, Liguori R, Montagna P, Lugaresi E. Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. Epilepsia. 2006;47(10):1643–9.
Guerrini R, Bonanni P, Patrignani A, Brown P, Parmeggiani L, Grosse P, Brovedani P, Moro F, Aridon P, Carrozzo R, Casari G. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Brain. 2001;124(Pt 12):2459–75.
Hitomi T, Ikeda A, Kondo T, Imamura H, Inouchi M, Matsumoto R, Terada K, Kanda M, Matsuhashi M, Nagamine T, Shibasaki H, Takahashi R. Increased cortical hyperexcitability and exaggerated myoclonus with aging in benign adult familial myoclonus epilepsy. Mov Disord. 2011. doi:10.1002/mds.23653. 26(8):1509–14.
Ikeda A, Kakigi R, Funai N, Neshige R, Kuroda Y, Shibasaki H. Cortical tremor: a variant of cortical reflex myoclonus. Neurology. 1990;40(10):1561–5.
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology. 2002;58(6):941–4.
Madia F, Striano P, Di Bonaventura C, de Falco A, de Falco FA, Manfredi M, Casari G, Striano S, Minetti C, Zara F. Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. Neurogenetics. 2008;9(2):139–42.
Magnin E, Vidailhet M, Depienne C, Saint-Martin C, Bouteiller D, LeGuern E, Apartis E, Rumbach L, Labauge P. Familial cortical myoclonic tremor with epilepsy (FCMTE): clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. Rev Neurol (Paris). 2009;165(10):812–20.
Magnin E, Vidailhet M, Ryff I, Ferreira S, Labauge P, Rumbach L. Fronto-striatal dysfunction in type 3 Familial Cortical Myoclonic Tremor Epilepsy occurring during aging. J Neurol. 2012 doi: 10.1007/s00415-012-6575-6.
Manabe Y, Narai H, Warita H, Hayashi T, Shiro Y, Sakai K, Kashihara K, Shoji M, Abe K. Benign adult familial myoclonic epilepsy (BAFME) with night blindness. Seizure. 2002;11(4):266–8.
Mikami M, Yasuda T, Terao A, Nakamura M, Ueno S, Tanabe H, Tanaka T, Onuma T, Goto Y, Kaneko S, Sano A. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet. 1999;65(3):745–51.
Morita S, Miwa H, Kondo T. A case of the familial essential myoclonus and epilepsy presenting behavioral arrest. No To Shinkei. 2003;55(4):345–8.
Nagayama S, Kishikawa H, Yukitake M, Matsui M, Kuroda Y. A case of familial myoclonus showing extremely benign clinical course. Rinsho Shinkeigaku. 1998;38(5):430–4.
Okuma Y, Shimo Y, Hatori K, Hattori T, Tanaka S, Mizuno Y. Familial cortical tremor with epilepsy. Parkinsonism Relat Disord. 1997;3(2):83–7.
Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptácek LJ. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology. 1999;53(6):1180–3.
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M. Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy). Neurophysiol Clin. 2006;36(5–6):345–9.
Saint-Martin C, Bouteiller D, Stevanin G, Popescu C, Charon C, Ruberg M, Baulac S, LeGuern E, Labauge P, Depienne C. Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics. 2008;9(1):69–71.
Saka E, Saygi S. Familial adult onset myoclonic epilepsy associated with migraine. Seizure. 2000;9(5):344–6.
Striano P, Chifari R, Striano S, de Fusco M, Elia M, Guerrini R, Casari G, Canevini MP. A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. Epilepsia. 2004;45(2):190–2.
Striano P, Madia F, Minetti C, Striano S, Zara F. Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. Epilepsia. 2005;46(12):1993–5.
Striano P, Striano S, Sara F. Re: Fame 3: a novel form of progressive myoclonus epilepsy. Neurology. 2008;70(1):85.
Striano P, de Falco FA, Minetti C, Zara F. Familial benign nonprogressive myoclonic epilepsies. Epilepsia. 2009a;50 Suppl 5:37–40.
Striano P, Caranci F, Di Benedetto R, Tortora F, Zara F, Striano S. (1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. Epilepsia. 2009b;50(6):1491–7.
Suppa A, Berardelli A, Brancati F, Marianetti M, Barrano G, Mina C, Pizzuti A, Sideri G. Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. Epilepsia. 2009;50(5):1284–8.
Terada K, Ikeda A, Mima T, Kimura M, Nagahama Y, Kamioka Y, Murone I, Kimura J, Shibasaki H. Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus. Mov Disord. 1997;12(3):370–7.
van Rootselaar F, Callenbach PM, Hottenga JJ, Vermeulen FL, Speelman HD, Brouwer OF, Tijssen MA. A Dutch family with ‘familial cortical tremor with epilepsy’. Clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1. J Neurol. 2002;249(7):829–34.
van Rootselaar AF, Aronica E, Jansen Steur EN, Rozemuller-Kwakkel JM, De Vos RA, Tijssen MA. Familial cortical tremor with epilepsy and cerebellar pathological findings. Mov Disord. 2004;19(2):213–7.
van Rootselaar AF, van Schaik IN, van den Maagdenberg AM, Koelman JH, Callenbach PM, Tijssen MA. Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. Mov Disord. 2005;20(6):665–73.
van Rootselaar AF, van der Salm SM, Bour LJ, Edwards MJ, Brown P, Aronica E, Rozemuller-Kwakkel JM, Koehler PJ, Koelman JH, Rothwell JC, Tijssen MA. Decreased cortical inhibition and yet cerebellar pathology in ‘familial cortical myoclonic tremor with epilepsy’. Mov Disord. 2007;22(16):2378–85.
van Rootselaar AF, Maurits NM, Renken R, Koelman JH, Hoogduin JM, Leenders KL, Tijssen MA. Simultaneous EMG-functional MRI recordings can directly relate hyperkinetic movements to brain activity. Hum Brain Mapp. 2008;29(12):1430–41.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2013 Springer Science+Business Media New York
About this chapter
Cite this chapter
Magnin, E., Labauge, P., Rumbach, L., Vidailhet, M. (2013). Update in Familial Cortical Myoclonic Tremor with Epilepsy. In: Grimaldi, G., Manto, M. (eds) Mechanisms and Emerging Therapies in Tremor Disorders. Contemporary Clinical Neuroscience. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-4027-7_14
Download citation
DOI: https://doi.org/10.1007/978-1-4614-4027-7_14
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-4026-0
Online ISBN: 978-1-4614-4027-7
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)