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Journal of Child Neurology
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Article

Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis

Stefano D'Arrigo, MD1*, Daria Riva, MD1, Sara Bulgheroni, MD1, Luisa Chiapparini, MD2, Barbara Castellotti, PhD3, Cinzia Gellera, PhD3, and Chiara Pantaleoni, MD1

1 Developmental Neurology Department, Fondazione Istituto Neurologico "C. Besta," Milan,Italy
2 Department of Neuroradiology, Fondazione Istituto Neurologico "C. Besta," Milan,Italy
3 Department of Biochemistry and Genetics, Fondazione Istituto Neurologico "C. Besta," Milan,Italy

* To whom correspondence should be addressed. E-mail: darrigo{at}istituto-besta.it.


  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.

First published on April 10, 2008, doi:10.1177/0883073808314959

Journal of Child Neurology 2008;23:895.

A more recent version of this article appeared on August 1, 2008

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