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NEUROLOGY 2004;63:2173-2175
© 2004 American Academy of Neurology
Brief Communications

Ataxia with oculomotor apraxia type 1 in Southern Italy

Late onset and variable phenotype

C. Criscuolo, MD*, P. Mancini, PhD*, F. Saccà, MS, G. De Michele, MD, A. Monticelli, MD, L. Santoro, MD, V. Scarano, MD, S. Banfi, MD and A. Filla, MD

From the Departments of Neurological Sciences (Drs. Criscuolo, Mancini, Saccà, Scarano, Santoro, De Michele, and Filla) and Molecular and Cellular Biology and Pathology (Dr. Monticelli), Federico II University, and Telethon Institute of Genetics and Medicine (Drs. Criscuolo and Banfi), Naples, Italy.

Address correspondence and reprint requests to Dr. C. Criscuolo, Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, I-80131, Napoli, Italy; e-mail: sky569{at}libero.it

Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found in one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical heterogeneity and onset later than previously described are shown.

Received March 29, 2004. Accepted in final form July 12, 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 December 14 issue to find the title link for this article.

*These authors contributed equally to this article.






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