Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS)

Molecular Neurobiology
Laila RachadSellama Nadifi

Abstract

Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21-q31 represent the major genetic cause of M-D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M-D family (DYT15, 18p11), but no gene has been identified yet. In this review, we discuss genetic aspects of myoclonus-dystonia.

References

Sep 1, 1967·Brain : a Journal of Neurology·M Mahloudji, R T Pikielny
Apr 29, 1999·Proceedings of the National Academy of Sciences of the United States of America·C KleinL J Ozelius
Nov 30, 1999·Annals of Neurology·T G NygaardS B Bressman
Oct 7, 2000·American Journal of Human Genetics·C KleinM Tagliati
Mar 26, 2002·Brain : a Journal of Neurology·Andrea H Németh
Aug 2, 2002·Current Opinion in Neurology·Christine Klein, Laurie J Ozelius
Oct 23, 2002·Neurology·D A GrimesD E Bulman
Oct 29, 2002·Annals of Neurology·Christine KleinLaurie J Ozelius
Nov 22, 2002·American Journal of Human Genetics·Birgitt MüllerChristine Klein
Mar 14, 2003·European Journal of Human Genetics : EJHG·Monika GrabowskiTim M Strom
Sep 23, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Enza-Maria ValenteThomas T Warner
Jul 20, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·B SchüleV Kostic
Oct 18, 2005·Journal of Medical Genetics·S Tezenas du MontcelUNKNOWN French Dystonia Network
Oct 22, 2005·Annals of Neurology·Friedrich AsmusThomas Gasser
Feb 3, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Fabin HanDavid A Grimes
Mar 31, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Eun Joo ChungIn-Suk Kim
Aug 19, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Friedrich AsmusPatrick F Chinnery
Jan 22, 2008·Human Mutation·A GrünewaldC Klein
Dec 11, 2008·Journal of Neurology, Neurosurgery, and Psychiatry·K RitzM A J Tijssen
Jan 2, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Kiyoka KinugawaEmmanuel Roze
Jul 16, 2010·Journal of Biochemistry·Fumiaki YokoiYuqing Li
Dec 16, 2010·European Journal of Human Genetics : EJHG·Katja RitzFrank Baas
Jun 29, 2012·Cells, Tissues, Organs·Giuseppe AnastasiFabio Trimarchi
May 17, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Miryam CarecchioEnza Maria Valente
Jun 19, 2013·Brain : a Journal of Neurology·Gavin CharlesworthNicholas W Wood
Dec 4, 2013·Journal of Neurology·Kristoffer HaugarvollLaurence A Bindoff

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Citations

Sep 18, 2018·Expert Review of Neurotherapeutics·Lior M ElkaimGeorge M Ibrahim
Jun 13, 2019·European Journal of Human Genetics : EJHG·Maria YakorevaKatrin Õunap
Aug 27, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Elisa MenozziKailash P Bhatia
Sep 29, 2020·Frontiers in Neurology·Jingying WuLi Cao
Jul 6, 2019·Case Reports in Psychiatry·Graciela Kriegel, Melanie I Stuckey
Apr 10, 2021·Current Problems in Pediatric and Adolescent Health Care·Joanna Blackburn, Mered Parnes
Apr 23, 2021·Molecular Neurobiology·Ana Cazurro-GutiérrezBelén Pérez-Dueñas

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