Literature DB >> 16161139

Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.

Daan J Kamphuis1, Hans Koelman, Andrew J Lees, Marina A J Tijssen.   

Abstract

We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa-unresponsive parkinsonism even if there is no family history and the classic presentation is lacking. Copyright (c) 2005 Movement Disorder Society.

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Year:  2006        PMID: 16161139     DOI: 10.1002/mds.20695

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  8 in total

1.  Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

Authors:  Ihtsham U Haq; Beverly M Snively; Kathleen J Sweadner; Cynthia K Suerken; Jared F Cook; Laurie J Ozelius; Charlotte Miller; William V McCall; Christopher T Whitlow; Allison Brashear
Journal:  Mov Disord       Date:  2019-07-30       Impact factor: 10.338

2.  Rapid-onset dystonia-parkinsonism: case report.

Authors:  Marina Svetel; Laurie J Ozelius; Amber Buckley; Katja Lohmann; Lela Brajković; Christine Klein; Vladimir S Kostić
Journal:  J Neurol       Date:  2010-03       Impact factor: 4.849

Review 3.  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

4.  Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.

Authors:  Jose M Bras; Rita J Guerreiro; James T H Teo; Lee Darwent; Jenny Vaughan; Sophie Molloy; John Hardy; Susanne A Schneider
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

5.  Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Authors:  Louis Viollet; Gustavo Glusman; Kelley J Murphy; Tara M Newcomb; Sandra P Reyna; Matthew Sweney; Benjamin Nelson; Frederick Andermann; Eva Andermann; Gyula Acsadi; Richard L Barbano; Candida Brown; Mary E Brunkow; Harry T Chugani; Sarah R Cheyette; Abigail Collins; Suzanne D DeBrosse; David Galas; Jennifer Friedman; Lee Hood; Chad Huff; Lynn B Jorde; Mary D King; Bernie LaSalle; Richard J Leventer; Aga J Lewelt; Mylynda B Massart; Mario R Mérida; Louis J Ptáček; Jared C Roach; Robert S Rust; Francis Renault; Terry D Sanger; Marcio A Sotero de Menezes; Rachel Tennyson; Peter Uldall; Yue Zhang; Mary Zupanc; Winnie Xin; Kenneth Silver; Kathryn J Swoboda
Journal:  PLoS One       Date:  2015-05-21       Impact factor: 3.240

Review 6.  ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Authors:  Philippe A Salles; Ignacio F Mata; Tobias Brünger; Dennis Lal; Hubert H Fernandez
Journal:  Front Neurol       Date:  2021-04-01       Impact factor: 4.003

7.  Genetically altered animal models for ATP1A3-related disorders.

Authors:  Hannah W Y Ng; Jennifer A Ogbeta; Steven J Clapcote
Journal:  Dis Model Mech       Date:  2021-10-06       Impact factor: 5.732

8.  ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Authors:  Lihua Yu; Guoping Peng; Yuan Yuan; Min Tang; Ping Liu; Xiaoyan Liu; Jie Ni; Yi Li; Caihong Ji; Ziqi Fan; Wenli Zhu; Benyan Luo; Qing Ke
Journal:  Front Aging Neurosci       Date:  2022-08-01       Impact factor: 5.702

  8 in total

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