Literature DB >> 25561273

Movement disorders in 2014. Genetic advances spark a revolution in dystonia phenotyping.

Tom J de Koning1, Marina A J Tijssen1.   

Abstract

Genetic revelations in 2014 are testing traditional classification systems for movement disorders, and our approach to clinical diagnostics. Mutations in dystonia-associated genes lead to a spectrum of disorders with different phenotypes, underscoring the need for stringent clinical phenotyping of patients with movement disorders, as well as next-generation sequencing approaches.

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Mesh：

Year:  2015        PMID： 25561273     DOI： 10.1038/nrneurol.2014.254

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  10 in total

Review 1.  Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.

Authors:  Martje E van Egmond; Anouk Kuiper; Hendriekje Eggink; Richard J Sinke; Oebele F Brouwer; Corien C Verschuuren-Bemelmans; Deborah A Sival; Marina A J Tijssen; Tom J de Koning
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-11-13       Impact factor: 10.154

Review 2.  Phenomenology and classification of dystonia: a consensus update.

Authors:  Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

3.  The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Authors:  Hendrik Rosewich; Andreas Ohlenbusch; Peter Huppke; Lars Schlotawa; Martina Baethmann; Inês Carrilho; Simona Fiori; Charles Marques Lourenço; Sarah Sawyer; Robert Steinfeld; Jutta Gärtner; Knut Brockmann
Journal:  Neurology       Date:  2014-02-12       Impact factor: 9.910

4.  Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Authors:  Eline M Hamilton; Emiel Polder; Adeline Vanderver; Sakkubai Naidu; Raphael Schiffmann; Kate Fisher; Ana Boban Raguž; Luba Blumkin; Carola G M van Berkel; Quinten Waisfisz; Cas Simons; Ryan J Taft; Truus E M Abbink; Nicole I Wolf; Marjo S van der Knaap
Journal:  Brain       Date:  2014-04-30       Impact factor: 13.501

5.  TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration.

Authors:  Chun-Chi Liang; Lauren M Tanabe; Stephanie Jou; Frank Chi; William T Dauer
Journal:  J Clin Invest       Date:  2014-06-17       Impact factor: 14.808

Review 6.  Distinct neurological disorders with ATP1A3 mutations.

Authors:  Erin L Heinzen; Alexis Arzimanoglou; Allison Brashear; Steven J Clapcote; Fiorella Gurrieri; David B Goldstein; Sigurður H Jóhannesson; Mohamad A Mikati; Brian Neville; Sophie Nicole; Laurie J Ozelius; Hanne Poulsen; Tsveta Schyns; Kathleen J Sweadner; Arn van den Maagdenberg; Bente Vilsen
Journal:  Lancet Neurol       Date:  2014-05       Impact factor: 44.182

Review 7.  The prevalence of primary dystonia: a systematic review and meta-analysis.

Authors:  Thomas D Steeves; Lundy Day; Jonathan Dykeman; Nathalie Jette; Tamara Pringsheim
Journal:  Mov Disord       Date:  2012-10-31       Impact factor: 10.338

8.  Short latency cerebellar modulation of the basal ganglia.

Authors:  Christopher H Chen; Rachel Fremont; Eduardo E Arteaga-Bracho; Kamran Khodakhah
Journal:  Nat Neurosci       Date:  2014-11-17       Impact factor: 24.884

9.  Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

Authors:  Gavin Charlesworth; Vincent Plagnol; Kira M Holmström; Jose Bras; Una-Marie Sheerin; Elisavet Preza; Ignacio Rubio-Agusti; Mina Ryten; Susanne A Schneider; Maria Stamelou; Daniah Trabzuni; Andrey Y Abramov; Kailash P Bhatia; Nicholas W Wood
Journal:  Am J Hum Genet       Date:  2012-11-29       Impact factor: 11.025

10.  Mutations in GNAL cause primary torsion dystonia.

Authors:  Tania Fuchs; Rachel Saunders-Pullman; Ikuo Masuho; Marta San Luciano; Deborah Raymond; Stewart Factor; Anthony E Lang; Tsao-Wei Liang; Richard M Trosch; Sierra White; Edmond Ainehsazan; Denis Hervé; Nutan Sharma; Michelle E Ehrlich; Kirill A Martemyanov; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330
  10 in total
  3 in total

Review 1.  Paradigm Shifts in Ophthalmic Diagnostics.

Authors:  J Sebag; Alfredo A Sadun; Eric A Pierce
Journal:  Trans Am Ophthalmol Soc       Date:  2016-08

2.  Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.

Authors:  Iris Jaitovich Groisman; Thierry Hurlimann; Amir Shoham; Béatrice Godard
Journal:  Eur J Hum Genet       Date:  2017-05-10       Impact factor: 4.246

3.  Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.

Authors:  Thierry Hurlimann; Iris Jaitovich Groisman; Béatrice Godard
Journal:  BMC Med Ethics       Date:  2018-09-29       Impact factor: 2.652
  3 in total

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