Literature DB >> 26790671

Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).

Laila Rachad1, Nadia El Kadmiri2, Ilham Slassi1,3, Hicham El Otmani3, Sellama Nadifi1.   

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.

Entities:  

Keywords:  DYT1; DYT11; DYT15; Myoclonus–dystonia; SGCE

Mesh：

Substances：

Year:  2016        PMID： 26790671     DOI： 10.1007/s12035-016-9712-x

Source DB:  PubMed          Journal:  Mol Neurobiol        ISSN： 0893-7648            Impact factor:   5.590


  43 in total

1.  A novel locus for inherited myoclonus-dystonia on 18p11.

Authors:  D A Grimes; F Han; A E Lang; P St George-Hyssop; L Racacho; D E Bulman
Journal:  Neurology       Date:  2002-10-22       Impact factor: 9.910

Review 2.  Inherited myoclonus-dystonia syndrome.

Authors:  T Gasser
Journal:  Adv Neurol       Date:  1998

3.  Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.

Authors:  Christine Klein; Liu Liu; Dana Doheny; Norman Kock; Birgitt Müller; Patricia de Carvalho Aguiar; Joanne Leung; Deborah de Leon; Susan B Bressman; Jeremy Silverman; Christopher Smith; Fabio Danisi; Chris Morrison; Ruth H Walker; Miodrag Velickovic; Eberhard Schwinger; Patricia L Kramer; Xandra O Breakefield; Mitchell F Brin; Laurie J Ozelius
Journal:  Ann Neurol       Date:  2002-11       Impact factor: 10.422

4.  Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Authors:  M B Sheridan; A Bytyci Telegrafi; V Stinnett; C C Umeh; Z Mari; T M Dawson; J Bodurtha; D A S Batista
Journal:  Clin Genet       Date:  2013-01-20       Impact factor: 4.438

5.  Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

Authors:  Friedrich Asmus; Farid Salih; Lena Elisabeth Hjermind; Karen Ostergaard; Marita Munz; Andrea A Kühn; Erik Dupont; Andreas Kupsch; Thomas Gasser
Journal:  Ann Neurol       Date:  2005-11       Impact factor: 10.422

6.  Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.

Authors:  C W Hess; D Raymond; P de Carvalho Aguiar; S Frucht; J Shriberg; G A Heiman; R Kurlan; C Klein; S B Bressman; L J Ozelius; R Saunders-Pullman
Journal:  Neurology       Date:  2007-02-13       Impact factor: 9.910

7.  Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Authors:  Kristoffer Haugarvoll; Charalampos Tzoulis; Gia T Tran; Bjørn Karlsen; Bernt A Engelsen; Per M Knappskog; Laurence A Bindoff
Journal:  J Neurol       Date:  2013-12-03       Impact factor: 4.849

8.  Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.

Authors:  Friedrich Asmus; Anita Devlin; Marita Munz; Alexander Zimprich; Thomas Gasser; Patrick F Chinnery
Journal:  Mov Disord       Date:  2007-10-31       Impact factor: 10.338

9.  A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.

Authors:  Michał Szubiga; Monika Rudzińska; Mirosław Bik-Multanowski; Jacek J Pietrzyk; Andrzej Szczudlik
Journal:  Neurol Res       Date:  2013-01-14       Impact factor: 2.448

10.  The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Authors:  Monika Grabowski; Alexander Zimprich; Bettina Lorenz-Depiereux; Vera Kalscheuer; Friedrich Asmus; Thomas Gasser; Thomas Meitinger; Tim M Strom
Journal:  Eur J Hum Genet       Date:  2003-02       Impact factor: 4.246
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  4 in total

Review 1.  ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.

Authors:  Ana Cazurro-Gutiérrez; Anna Marcé-Grau; Marta Correa-Vela; Ainara Salazar; María I Vanegas; Alfons Macaya; Àlex Bayés; Belén Pérez-Dueñas
Journal:  Mol Neurobiol       Date:  2021-04-22       Impact factor: 5.590

2.  Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.

Authors:  Jiao Li; Yiqiong Liu; Qin Li; Xiaolin Huang; Dingxi Zhou; Hanjian Xu; Feng Zhao; Xiaoxiao Mi; Ruoxu Wang; Fan Jia; Fuqiang Xu; Jing Yang; Dong Liu; Xuliang Deng; Yan Zhang
Journal:  Neurosci Bull       Date:  2020-12-23       Impact factor: 5.203

3.  Quality of life outcomes after deep brain stimulation in dystonia: A systematic review.

Authors:  Takashi Tsuboi; Joshua K Wong; Michael S Okun; Adolfo Ramirez-Zamora
Journal:  Parkinsonism Relat Disord       Date:  2019-11-18       Impact factor: 4.402

4.  A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation.

Authors:  Valentina Besa Lehmann; Marc Rosenbaum; Dennis E Bulman; Tara Read; Leo Verhagen Metman
Journal:  Neurol Ther       Date:  2020-04-09
  4 in total

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