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NEUROLOGY 2005;64:908-911
© 2005 American Academy of Neurology
Brief Communications

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

J. Hagenah, MD, R. Saunders-Pullman, MD, K. Hedrich, PhD, K. Kabakci, MD, K. Habermann, MS, K. Wiegers, BS, K. Mohrmann, MD, T. Lohnau, BS, D. Raymond, MS, P. Vieregge, MD, T. Nygaard, MD, L. J. Ozelius, PhD, S. B. Bressman, MD and C. Klein, MD

From the Departments of Neurology (Drs. Hagenah, Kabakci, Mohrmann, Vieregge, and Klein, K. Wiegers, T. Lohnau) and Human Genetics (Drs. Hedrich, Kabakci, and Mohrmann, K. Wiegers, T. Lohnau), University of Lübeck, Lübeck, Germany; Department of Neurology (Drs. Saunders-Pullman, Nygaard, and Bressman, K. Habermann, D. Raymond), Beth Israel Medical Center, New York, NY; Departments of Neurology (Drs. Saunders-Pullman and Bressman) and Molecular Genetics (Dr. Ozelius), Albert Einstein College of Medicine, Bronx, NY; Department of Neurology (Dr. Vieregge), Klinikum Lippe-Lemgo, Lemgo, Germany.

Address correspondence and reprint requests to Dr. Christine Klein, Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany; e-mail: klein_ch{at}neuro.mu-luebeck.de

Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitative PCR analyses and found mutations, including two large exon deletions, in 87%. The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis.




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