Journal
NEUROLOGY
Volume 60, Issue 4, Pages 700-702Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000048205.18445.98
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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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