Literature DB >> 14534929

Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.

Yoshiki Sekijima1, Takao Hashimoto, Osam Onodera, Hidetoshi Date, Tomomi Okano, Kosuke Naito, Shoji Tsuji, Shu-ichi Ikeda.   

Abstract

A 14-year-old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder. Copyright 2003 Movement Disorder Society

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Year:  2003        PMID： 14534929     DOI： 10.1002/mds.10526

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


  9 in total

Review 1.  New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Authors:  Isabelle Le Ber; Alexis Brice; Alexandra Dürr
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

2.  Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Authors:  Mathilde Renaud; Maria-Céu Moreira; Bondo Ben Monga; Diana Rodriguez; Rabab Debs; Perrine Charles; Malika Chaouch; Farida Ferrat; Chloé Laurencin; Laurent Vercueil; Martial Mallaret; Abderrahim M'Zahem; Lamia Ali Pacha; Meriem Tazir; Caroline Tilikete; Elisabeth Ollagnon; François Ochsner; Thierry Kuntzer; Hans H Jung; Jean-Marie Beis; Jean-Claude Netter; Atbin Djamshidian; Mattew Bower; Armand Bottani; Richard Walsh; Sinead Murphy; Thomas Reiley; Éric Bieth; Filip Roelens; Bwee Tien Poll-The; Charles Marques Lourenço; Laura Bannach Jardim; Rachel Straussberg; Pierre Landrieu; Emmanuel Roze; Stéphane Thobois; Jean Pouget; Claire Guissart; Cyril Goizet; Alexandra Dürr; Christine Tranchant; Michel Koenig; Mathieu Anheim
Journal:  JAMA Neurol       Date:  2018-04-01       Impact factor: 18.302

3.  Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Authors:  Barbara Castellotti; Caterina Mariotti; Marco Rimoldi; Roberto Fancellu; Massimo Plumari; Sara Caimi; Graziella Uziel; Nardo Nardocci; Isabella Moroni; Giovanna Zorzi; Davide Pareyson; Daniela Di Bella; Stefano Di Donato; Franco Taroni; Cinzia Gellera
Journal:  Neurogenetics       Date:  2011-04-05       Impact factor: 2.660

4.  Aprataxin localizes to mitochondria and preserves mitochondrial function.

Authors:  Peter Sykora; Deborah L Croteau; Vilhelm A Bohr; David M Wilson
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-18       Impact factor: 11.205

5.  Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.

Authors:  Elena Salvatore; Andrea Varrone; Chiara Criscuolo; Pietro Mancini; Valeria Sansone; Caterina Strisciuglio; Domenico Cicala; Valencia Scarano; Marco Salvatore; Sabina Pappatà; Giuseppe De Michele; Alessandro Filla
Journal:  J Neurol       Date:  2007-11-21       Impact factor: 4.849

Review 6.  More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

Authors:  Toni S Pearson
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2016-07-16

7.  Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

Authors:  Jingga Inlora; M Reza Sailani; Hamidreza Khodadadi; Ahmad Teymurinezhad; Shinichi Takahashi; Jonathan A Bernstein; Masoud Garshasbi; Michael P Snyder
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21

Review 8.  Recent advances in understanding and managing dystonia.

Authors:  Stephen Tisch
Journal:  F1000Res       Date:  2018-07-24

Review 9.  Movement Disorders in Genetic Pediatric Ataxias.

Authors:  Simone Gana; Enza Maria Valente
Journal:  Mov Disord Clin Pract       Date:  2020-04-06
  9 in total

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