Literature DB >> 30838256

Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3).

Jacinda B Sampson1, Tamar H Michaeli2, Brenton A Wright3, James E Goldman4, Jean-Paul Vonsattel5, Stanley Fahn6.   

Abstract

Entities:  

Keywords:  ATPase NA+/K+ transporting subunit α3 (ATP1A3); Parkinsonism; amantadine; dystonia; gliosis

Year:  2016        PMID： 30838256      PMCID： PMC6353479          DOI： 10.1002/mdc3.12354

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  6 in total

Review 1.  The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Authors:  Matthew T Sweney; Tara M Newcomb; Kathryn J Swoboda
Journal:  Pediatr Neurol       Date:  2014-10-13       Impact factor: 3.372

2.  Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Authors:  Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Journal:  Neuron       Date:  2004-07-22       Impact factor: 17.173

3.  Functional roles of the alpha isoforms of the Na,K-ATPase.

Authors:  Jerry Lingrel; Amy Moseley; Iva Dostanic; Marc Cougnon; Suiwen He; Paul James; Alison Woo; Kyle O'Connor; Jonathan Neumann
Journal:  Ann N Y Acad Sci       Date:  2003-04       Impact factor: 5.691

Review 4.  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

5.  De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Authors:  Erin L Heinzen; Kathryn J Swoboda; Yuki Hitomi; Fiorella Gurrieri; Sophie Nicole; Boukje de Vries; F Danilo Tiziano; Bertrand Fontaine; Nicole M Walley; Sinéad Heavin; Eleni Panagiotakaki; Stefania Fiori; Emanuela Abiusi; Lorena Di Pietro; Matthew T Sweney; Tara M Newcomb; Louis Viollet; Chad Huff; Lynn B Jorde; Sandra P Reyna; Kelley J Murphy; Kevin V Shianna; Curtis E Gumbs; Latasha Little; Kenneth Silver; Louis J Ptáček; Joost Haan; Michel D Ferrari; Ann M Bye; Geoffrey K Herkes; Charlotte M Whitelaw; David Webb; Bryan J Lynch; Peter Uldall; Mary D King; Ingrid E Scheffer; Giovanni Neri; Alexis Arzimanoglou; Arn M J M van den Maagdenberg; Sanjay M Sisodiya; Mohamad A Mikati; David B Goldstein
Journal:  Nat Genet       Date:  2012-07-29       Impact factor: 38.330

6.  Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.

Authors:  Adrian L Oblak; Matthew C Hagen; Kathleen J Sweadner; Ihtsham Haq; Christopher T Whitlow; Joseph A Maldjian; Francine Epperson; Jared F Cook; Mark Stacy; Jill R Murrell; Laurie J Ozelius; Allison Brashear; Bernardino Ghetti
Journal:  Acta Neuropathol       Date:  2014-05-07       Impact factor: 17.088
  6 in total
  1 in total

1.  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
  1 in total

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