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Neurology 2003;60:1354-1356
© 2003 American Academy of Neurology
Brief Communications

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

A. Agostino, MSc, L. Valletta, MSc, P.F. Chinnery, PhD MRCP, G. Ferrari, MSc, F. Carrara, BSc, R.W. Taylor, PhD, A.M. Schaefer, MRCP, D.M. Turnbull, PhD FRCP, V. Tiranti, PhD and M. Zeviani, MD PhD

From the Unit of Molecular Neurogenetics (Drs. Tiranti and Zeviani, and A. Agostino, L. Valletta, G. Ferrari, and F. Carrara), Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy, and Department of Neurology (Drs. Chinnery, Taylor, Schaefer, and Turnbull), The University of Newcastle upon Tyne, Newcastle, UK.

Address correspondence and reprint requests to Dr. Massimo Zeviani, Unit of Molecular Neurogenetics, National Neurological Institute Carlo Besta, via Temolo 4, 20126 Milan, Italy; e-mail: zeviani{at}tin.it

To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions.




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