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NEUROLOGY 1988;38:707
© 1988 American Academy of Neurology

Dystonia with marked diurnal variation associated with biopterin deficiency

J. K. Fink, MD, N. Barton, MD, PhD, W. Cohen, MD, W. Lovenberg, PhD, R. S. Burns, MD and M. Hallett, MD

From the Developmental and Metabolic Neurology Branch and Office of the Clinical Director, Intramural Research Program (Drs. Fink, Barton, and Hallett), National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD; the Merrill-Dow Research Institute (Dr. Lovenberg), Cincinnati, OH; the Department of Psychiatry (Dr. Bums), Vanderbilt University, Nashville, TN; and the Division of Genetics (Dr. Cohen), Children's Hospital of Los Angeles, University of Southern California, Los Angeles, CA.

Two pairs of siblings with severe dystonia with marked diurnal fluctuation had both reduced CSF concentration of biopterin and marked symptomatic improvement of the dystonia in response to levodopa. Whether the reduced concentration of biopterin reflects focal abiotrophy of biopterin-containing neurons or deficiency of biopterin synthesis is uncertain. A fifth individual, who had a systemic deficiency of biopterin synthesis, shared the features of reduced biopterin in CSF, marked diurnal variation in the degree of dystonia, and clinical improvement in response to levodopa. Generalized dystonia with marked diurnal fluctuation was therefore shared by the four patients in whom biopterin deficiency was limited to the CNS and the patient with systemic deficiency of biopterin.

Address correspondence and reprint requests to Dr. Fink, Building 10, Room 4N248, National Institutes of Health, Bethesda, MD 20892.

Received March 31, 1987. Accepted for publication in final form September 25, 1987.




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