Literature DB >> 16159533

Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.

Chang Y Tsao1, George Paulson.   

Abstract

Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We report two American children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with oculomotor apraxia.

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Year:  2005        PMID： 16159533     DOI： 10.1177/08830738050200071701

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  5 in total

1.  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

2.  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

Review 3.  Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review.

Authors:  Sze Yuen Lew; Michael Weng Lok Phang; Pit Shan Chong; Jaydeep Roy; Chi Him Poon; Wing Shan Yu; Lee Wei Lim; Kah Hui Wong
Journal:  Pharmaceuticals (Basel)       Date:  2022-06-19

4.  Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

Authors:  Saeed A Bohlega; Jameela M Shinwari; Latifa J Al Sharif; Dania S Khalil; Thamer S Alkhairallah; Nada A Al Tassan
Journal:  BMC Med Genet       Date:  2011-02-16       Impact factor: 2.103

5.  Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.

Authors:  Abdul Qayyum Rana; Osama A Khan; Raza Akthar
Journal:  Ann Indian Acad Neurol       Date:  2013-04       Impact factor: 1.383
  5 in total

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