Journal of Child Neurology

 

Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

http://mc.manuscriptcentral.com/childneurology

Click here to sign up for SAGE Journal Email Alerts today!

Sign In to gain access to subscriptions and/or personal tools.
This Article
Right arrow Full Text (OnlineFirst PDF)
Right arrow All Versions of this Article:
0883073808314959v1
23/8/895    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Google Scholar
Right arrow Articles by D'Arrigo, S.
Right arrow Articles by Pantaleoni, C.
PubMed
Right arrow PubMed Citation
Right arrow Articles by D'Arrigo, S.
Right arrow Articles by Pantaleoni, C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?
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

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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?