Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation.
We administered tetrahydrobiopterin (BH4) to 4 patients with progressive dystonia with diurnal variation (PDDV). One patient improved clinically. Deficient CSF concentrations of HVA and 5-HIAA were unchanged despite marked elevation of CSF biopterin concentration. Variable effectiveness of BH4 in PDDV may reflect reduced number or function of biopterin-metabolizing neurons or variable entry of BH4 into these neurons.
Fink
J K
JK
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.
Ravin
P
P
Argoff
C E
CE
Levine
R A
RA
Brady
R O
RO
Hallett
M
M
Barton
N W
NW
D000328:Adult; D001708:Biopterins / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000134:cerebrospinal fluid / Q000378:metabolism* / Q000627:therapeutic use; D002648:Child; D002940:Circadian Rhythm; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008124:Locomotion / Q000187:drug effects; D008297:Male
D001708:Biopterins; D006897:Hydroxyindoleacetic Acid; C003402:sapropterin; D006719:Homovanillic Acid