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Neurology 2002;59:1783-1786
© 2002 American Academy of Neurology
Brief Communications

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

C. Klein, MD, K. Hedrich, MS, K. Kabakçi, BS, K. Mohrmann, BS, K. Wiegers, BS, O. Landt, PhD, J. Hagenah, MD, E. Schwinger, MD, P. P. Pramstaller, MD, L. J. Ozelius, PhD, K. Gucuyener, MD, S. Aysun, MD and E. Demir, MD

From the Departments of Neurology (Drs. Klein and Hagenah, K. Hedrich, K. Kabakçi, K. Mohrmann, and K. Wiegers) and Human Genetics (Drs. Klein and Schwinger, K. Hedrich, K. Kabakçi, K. Mohrmann, and K. Wiegers), Medical University of Lübeck, and TIB MOLBIOL (Dr. Landt), Berlin, Germany; Department of Neurology (Dr. Pramstaller), Regional General Hospital, Bolzano, Italy; Albert Einstein College of Medicine (Dr. Ozelius), Bronx, NY; Department of Pediatric Neurology (Dr. Gucuyener), Gazi University, and Department of Pediatric Neurology (Drs. Aysun and Demir), Hacettepe University, Ankara, Turkey.

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

Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.




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