title: [Hereditary parkinsonism-dystonia syndrome of juvenile onset with diurnal fluctuations].
abstract: Symptoms of fluctuating dystonia developed in 4 subjects of the same family during childhood or adolescence. In the 2 sisters, these symptoms were initially or subsequently associated with signs of parkinsonism, whereas in the 2 brothers they disappeared, spontaneously in at least 1 case, and signs of parkinsonism appeared later after a free interval. Anticholinergic agents and L-Dopa proved very effective against all extrapyramidal signs. These cases are similar to those gathered by Nygaard et al. in 1988 under the term "Dopa-responsive dystonia". Yet laboratory data seem to confirm that the common physiological mechanism is a disorder of tetrahydrobiopterin metabolism. Serum and urinary biopterin levels were lowered in our 4 cases but were normal in an unaffected sister. However, like the subjects affected this third sister showed a decrease of platelet serotonin which was taken as being a consequence of aromatic aminoacid hydroxylation defect due to tetrahydrobiopterin deficiency.
authors.affiliation: Service de Clinique Neurologique A, CHU Lille.
authors.forename: A
authors.initials: A
authors.lastname: Destée
authors.forename: L
authors.initials: L
authors.lastname: Defebvre
authors.forename: B
authors.initials: B
authors.lastname: Delisse
authors.forename: J D
authors.initials: JD
authors.lastname: Guieu
mesh_terms: D000293:Adolescent; D002648:Child; D004421:Dystonia / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D010302:Parkinson Disease, Secondary / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome
vernacular_title: Syndrome dystonie-parkinsonisme héréditaire de bébut infantile avec fluctuations diurnes.