Open AccessDOI
Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.
Tom van den Ende,Sarvi Sharifi,Sandra M. A. van der Salm,Anne-Fleur van Rootselaar +3 more
- Vol. 8, pp 503-503
TLDR
Based on the core features of FCMTE, the syndrome can be considered a distinct clinical entity and likely to include a variety of different conditions with mutations of different genes.Abstract:
Background: Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria. Results: Phenotypic differences across pedigrees exist, possibly related to underlying genetic differences. A “benign” phenotype has been described in several Japanese families and pedigrees linked to 8q (FCMTE1). French patients (5p linkage; FCMTE3) exhibit more severe progression, and in Japanese/Chinese pedigrees (with unknown linkage) anticipation has been suggested. Preferred treatment is with valproate (mind teratogenicity), levetiracetam, and/or clonazepam. Several genes have been identified, which differ in potential pathogenicity. Discussion: Based on the core features (above), the syndrome can be considered a distinct clinical entity. Clinical features may also include proximal myoclonus and mild progression with aging. Valproate or levetiracetam, with or without clonazepam, reduces symptoms. FCMTE is a heterogeneous disorder, and likely to include a variety of different conditions with mutations of different genes. Distinct phenotypic traits might reflect different genetic mutations. Genes involved in Purkinje cell outgrowth or those encoding for ion channels or neurotransmitters seem good candidate genes.read more
Citations
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30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
TL;DR: The current and most recent knowledge about the genetics of repeat expansion disorders and the diversity of their pathophysiological mechanisms are summarized and the perspectives of developing personalized treatments in the future are outlined.
Journal ArticleDOI
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Rahel T. Florian,Florian Kraft,Elsa Leitão,Sabine Kaya,Stephan Klebe,Eloi Magnin,Anne-Fleur van Rootselaar,Julien Buratti,Theresa Kühnel,Christopher Schröder,Sebastian Giesselmann,Nikolai Tschernoster,Janine Altmueller,Anaide Lamiral,Boris Keren,Caroline Nava,Delphine Bouteiller,Sylvie Forlani,Ludmila Jornea,Regina Kubica,Tao Ye,Damien Plassard,Bernard Jost,Vincent Meyer,Jean-François Deleuze,Yannick Delpu,Mario D. M. Avarello,Lisanne S. Vijfhuizen,Gabrielle Rudolf,Edouard Hirsch,Thessa Kroes,Philipp S. Reif,Philipp S. Reif,Felix Rosenow,Felix Rosenow,Christos Ganos,Marie Vidailhet,Lionel Thivard,Alexandre Mathieu,Thomas Bourgeron,Ingo Kurth,Haloom Rafehi,Haloom Rafehi,Laura Steenpass,Bernhard Horsthemke,Eric LeGuern,Karl Martin Klein,Karl Martin Klein,Karl Martin Klein,Pierre Labauge,Mark F. Bennett,Mark F. Bennett,Melanie Bahlo,Melanie Bahlo,Jozef Gecz,Mark A. Corbett,Marina A. J. Tijssen,Arn M. J. M. van den Maagdenberg,Christel Depienne,Christel Depienne,Christel Depienne +60 more
TL;DR: Mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 are described as a cause of FAME3 and revealed that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.
Journal ArticleDOI
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Mark A. Corbett,Thessa Kroes,Liana Veneziano,Mark F. Bennett,Mark F. Bennett,Rahel T. Florian,Amy L Schneider,Antonietta Coppola,Laura Licchetta,Silvana Franceschetti,Antonio Suppa,Aaron M. Wenger,Davide Mei,Manuela Pendziwiat,Sabine Kaya,Massimo Delledonne,Rachel Straussberg,Luciano Xumerle,Brigid M. Regan,Douglas E. Crompton,Douglas E. Crompton,Anne Fleur van Rootselaar,Anthony Correll,Rachael Catford,Francesca Bisulli,Shreyasee Chakraborty,Sara Baldassari,Paolo Tinuper,Kirston Barton,Shaun Carswell,Martin A. Smith,Martin A. Smith,Alfredo Berardelli,Renee Carroll,Alison Gardner,Kathryn Friend,Ilan Blatt,Michele Iacomino,Carlo Di Bonaventura,Salvatore Striano,Julien Buratti,Boris Keren,Caroline Nava,Sylvie Forlani,Gabrielle Rudolf,Edouard Hirsch,Eric LeGuern,Pierre Labauge,Simona Balestrini,Josemir W. Sander,Zaid Afawi,Ingo Helbig,Ingo Helbig,Hiroyuki Ishiura,Shoji Tsuji,Shoji Tsuji,Sanjay M. Sisodiya,Giorgio Casari,Lynette G. Sadleir,Riaan van Coller,Marina A. J. Tijssen,Karl Martin Klein,Karl Martin Klein,Karl Martin Klein,Arn M. J. M. van den Maagdenberg,Federico Zara,Renzo Guerrini,Samuel F. Berkovic,Tommaso Pippucci,Laura Canafoglia,Melanie Bahlo,Melanie Bahlo,Pasquale Striano,Ingrid E. Scheffer,Ingrid E. Scheffer,Francesco Brancati,Francesco Brancati,Christel Depienne,Christel Depienne,Jozef Gecz +79 more
TL;DR: Evidence is provided that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of STARD7, suggesting ATTTC expansions may cause this disorder, irrespective of the genomic locus involved.
Journal ArticleDOI
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
Patra Yeetong,Monnat Pongpanich,Chalurmpon Srichomthong,Chalurmpon Srichomthong,Adjima Assawapitaksakul,Adjima Assawapitaksakul,Varote Shotelersuk,Varote Shotelersuk,Nithiphut Tantirukdham,Chaipat Chunharas,Kanya Suphapeetiporn,Kanya Suphapeetiporn,Vorasuk Shotelersuk,Vorasuk Shotelersuk +13 more
TL;DR: Single-molecule real-time sequencing found expansions of TTTTA and insertions of TTTCA repeats in intron 1 of YEATS2 in one affected member of the family and suggests that BAFME4, benign adult familial myoclonic epilepsy type 4, is caused by the insertion of the intronic TTTC a repeats in YEats2.
References
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Journal ArticleDOI
Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology
Robert S. Fisher,J. Helen Cross,Jacqueline A. French,Norimichi Higurashi,Edouard Hirsch,Floor E. Jansen,Lieven Lagae,Solomon L. Moshé,Jukka Peltola,Eliane Roulet Perez,Ingrid E. Scheffer,Sameer M. Zuberi,Sameer M. Zuberi +12 more
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Journal ArticleDOI
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel
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TL;DR: It is concluded that a small polyglutamine expansion in the human α1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
Journal ArticleDOI
Aging of the human cerebellum: A stereological study
TL;DR: Cerebella from 19 normal Caucasian males, ages 19–84 years, were studied using stereological methods and a significant change was observed with age in the anterior lobe, where a selective 40% loss of both Purkinje and granule cells was found.
Journal ArticleDOI
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TL;DR: A review of existing studies reporting cerebellar dysfunction in various psychiatric disorders and future directions for studies linking the cerebellum to psychiatric disorders is discussed.
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