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Neurology 2003;60:700-702
© 2003 American Academy of Neurology
Brief Communications

The phenylalanine loading test in the differential diagnosis of dystonia

O. Bandmann, MD PhD, M. Goertz, J. Zschocke, MD PhD, G. Deuschl, MD, W. Jost, MD, H. Hefter, MD, U. Müller, MD, P. Zöfel, G. Hoffmann, MD and W. Oertel, MD

From the Department of Neurology (Drs. Bandmann and Oertel, and M. Goertz) and Hochschulrechenzentrum (Dr. Zöfel), Philipps-University Marburg; Department of Pediatrics (Drs. Zschocke and Hoffmann), University of Heidelberg; Department of Neurology (Dr. Deuschl), University of Kiel; Department of Neurology (Dr. Jost), Deutsche Klinik für Diagnostik, Wiesbaden; Department of Neurology (Dr. Hefter), Heinrich-Heine-University, Düsseldorf; and Institute of Human Genetics (Dr. Müller), Liebig-University, Giessen, Germany.

Address correspondence and reprint requests to Dr. O. Bandmann, Academic Neurology Unit, E Floor Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK; e-mail: o.bandmann{at}sheffield.ac.uk

Early diagnosis of dopa-responsive dystonia (DRD) and its delineation from other dystonic syndromes is of great relevance because DRD is an eminently treatable condition. The possible relevance of the phenylalanine loading test (Phe-L) in differentiating DRD from primary focal and generalized dystonia was investigated. A marked difference in the phenylalanine/tyrosine ratio between patients with DRD and patients with other types of dystonia was observed. This indicates that Phe-L may be helpful in the differential diagnosis of dystonias.




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