Differential diagnosis of familial adult myoclonic epilepsy.
cortical myoclonus
cortical tremor
differential diagnosis
familial adult myoclonic epilepsy
intronic repeat expansions
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
revised:
27
01
2023
received:
17
12
2022
accepted:
06
02
2023
medline:
19
6
2023
pubmed:
9
2
2023
entrez:
8
2
2023
Statut:
ppublish
Résumé
Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by pentanucleotide repeat expansions of intronic TTTCA/TTTTA in different genes. FAME should be distinguished from a range of differential diagnoses. The differential diagnoses and frequent presentations leading to misdiagnosis of FAME were investigated from the available literature and reported based on an expert opinion survey. The phenotypic features of FAME, including generalized tonic-clonic and myoclonic seizures, are also seen in other epilepsy syndromes, such as juvenile myoclonic epilepsy, with a resultant risk of misdiagnosis and lack of identification of the underlying cause. Cortical myoclonus may mimic essential tremor or drug-induced tremor. In younger individuals, the differential diagnosis includes progressive myoclonus epilepsies (PMEs), such as Unverricht-Lundborg disease, whereas, in adulthood, late-onset variants of PMEs, such as sialidoses, myoclonus epilepsy, and ataxia due to potassium channel pathogenic variants should be considered. PMEs may also be suggested by cognitive impairment, cerebellar signs, or psychiatric disorders. Electroencephalography (EEG) may show similarities to other idiopathic generalized epilepsies or PMEs, with generalized spike-wave activity. Signs of cortical hyperexcitability may be seen, such as an increased amplitude of somatosensory evoked potentials or enhanced cortical reflex to sensory stimuli, together with the neurophysiological pattern of the movement disorder. Recognition of FAME will inform prognostic and genetic counseling and diagnosis of the insidious progression, which may occur in older individuals who show mild cognitive deterioration. Distinguishing FAME from other disorders in individuals or families with this constellation of symptoms is essential to allow the identification of underlying etiology.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
S52-S57Informations de copyright
© 2023 International League Against Epilepsy.
Références
Lagorio I, Zara F, Striano S, Striano P. Familial adult myoclonic epilepsy: a new expansion repeats disorder. Seizure. 2019;67:73-7. https://doi.org/10.1016/j.seizure.2019.03.009
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.
van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF. Familial cortical myoclonic tremor and epilepsy, an enigmatic disorder: from phenotypes to pathophysiology and genetics a systematic review. Tremor Other Hyperkinet Mov. 2018;8:503. https://doi.org/10.7916/D85155WJ
Aydin Ozemir Z, Oguz Akarsu E, Matur Z, Oge AE, Baykan B. Autosomal dominant cortical tremor, myoclonus, and epilepsy syndrome mimicking juvenile myoclonic epilepsy. Noro Psikiyatr Ars. 2016;53(3):272-5.
Striano P, Zara F, Striano S. Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. Acta Neurol Scand. 2005;111(4):211-7.
Guerrini R, Parmeggiani L, Marini C, Brovedani P, Bonanni P. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2. Adv Neurol. 2005;95:273-9.
Panayiotopoulos CP, Obeid T, Tahan AR. Juvenile myoclonic epilepsy: a 5-year prospective study. Epilepsia. 1994;35(2):285-96. https://doi.org/10.1111/j.1528-1157.1994.tb02432.x
Panzica F, Rubboli G, Franceschetti S, Avanzini G, Meletti S, Pozzi A, et al. Cortical myoclonus in Janz syndrome. Clin Neurophysiol. 2001;112(10):1803-9. https://doi.org/10.1016/s1388-2457(01)00634-4
Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology. 2014;82(5):405-11. https://doi.org/10.1212/WNL.0000000000000077
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, et al. Progressive myoclonus epilepsies-residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. Am J Hum Genet. 2021;108(4):722-38. https://doi.org/10.1016/j.ajhg.2021.03.013
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. https://doi.org/10.1212/WNL.0000000000004518
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: analysis of 20 cases and K+ channel properties. Ann Neurol. 2017;81(5):677-89. https://doi.org/10.1002/ana.24929
Canafoglia L, Robbiano A, Pareyson D, Panzica F, Nanetti L, Giovagnoli AR, et al. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. Neurology. 2014;82(22):2003-6.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, et al. Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. Brain. 2019;142(1):59-69. https://doi.org/10.1093/brain/awy297
Hirsch E, French J, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, et al. ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions. Epilepsia. 2022;63(6):1475-99. https://doi.org/10.1111/epi.17236
Baizabal-Carvallo JF, Morgan JC. Drug-induced tremor, clinical features, diagnostic approach and management. J Neurol Sci. 2022;435:120192. https://doi.org/10.1016/j.jns.2022.120192
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.
Wang B, Wang J, Cen Z, Wei W, Xie F, Chen Y, et al. Altered cerebello-motor network in familial cortical myoclonic tremor with epilepsy type 1. Mov Disord. 2020;35(6):1012-20.
Seixas AI, Loureiro JR, Costa C, Ordonez-Ugalde A, Marcelino H, Oliveira CL, et al. A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia. Am J Hum Genet. 2017;101:87-103.
Zhang Y, Xiong W, Lu L, Zhou D. Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families. Brain Res. 2020;15(1737):146796. https://doi.org/10.1016/j.brainres.2020.146796
Baykan B, Wolf P. Juvenile myoclonic epilepsy as a spectrum disorder: a focused review. Seizure. 2017;49:36-41. https://doi.org/10.1016/j.seizure.2017.05.011
Coppola A, Caccavale C, Santulli L, Balestrini S, Cagnetti C, Licchetta L, et al. Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy. Epilepsy Behav. 2016;56:38-43. https://doi.org/10.1016/j.yebeh.2015.12.038