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NEUROLOGY 2004;63:928-929
© 2004 American Academy of Neurology
Brief Communications

Aprataxin gene mutations in Tunisian families

R. Amouri, PhD, M. -C. Moreira, PhD, M. Zouari, MD, G. El Euch, MD, C. Barhoumi, PhD, M. Kefi, MD, S. Belal, MD, M. Koenig, MD, PhD and F. Hentati, MD

From the Institut National de Neurologie (Drs. Amouri, Zouari, Barhoumi, Kefi, and Hentati), Département de Biologie Moléculaire et de Neuropathologie; and Institut de Génétique et de Biologie Cellulaire et Moléculaire (Drs. Moreira and Koenig), CNRS/INSERM Université Louis Pasteur, Illkirch, CHU de Strasbourg, France.

Address correspondence and reprint requests to Dr. Fayçal Hentati, Institut National de Neurologie, Laboratoire de Neurobiologie Moléculaire, Et de Neuropathologie, 1007 La Rabta, Tunis, Tunisia; e-mail: faycal.hentati{at}rns.tn

The authors report clinical and genetic study of 13 patients from three unrelated Tunisian families with an early onset cerebellar ataxia associated with oculomotor apraxia. Cerebellar ataxia with oculomotor apraxia 1 (AOA1) represents a clinically heterogeneous disease caused by mutations in the aprataxin gene. Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate with an increased severity of the disease, and a splice mutation on the acceptor splice site of exon 7.

Received March 12, 2003. Accepted in final form April 26, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the September 14 issue to find the title link for this article.




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