Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

Journal of Child Neurology
Stefano D'ArrigoChiara Pantaleoni

Abstract

Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cognitive impairment are present in the adult stage. AOA1 is caused by a mutation in the APTX gene (9p13.3) encoding a nuclear protein named aprataxin, which is involved in the mechanism of DNA repair. We report here the clinical features of 2 patients with mutations in the APTX gene, and we discuss the differential diagnosis with other forms of hereditary ataxia.

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Citations

Apr 12, 2012·Archives of Neurology·Valentina EmmanueleMichio Hirano
Apr 20, 2011·Proceedings of the National Academy of Sciences of the United States of America·Peter SykoraDavid M Wilson
Apr 14, 2011·Brain : a Journal of Neurology·Akio YokosekiOsamu Onodera
Jun 6, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Fatih Ozaltin
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Nov 21, 2013·Annals of Human Genetics·Christina VotsiKyproula Christodoulou
Mar 1, 2014·Biochimica Et Biophysica Acta·Laura García-CorzoLuis C López
May 16, 2015·Human Molecular Genetics·Beatriz Garcia-DiazCatarina M Quinzii

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