DOPA-RESPONSIVE DYSTONIA

The past 18 months have seen significant advances in our understanding of dopa(dihydroxyphenylalanine)-responsive dystonia. Clinical investi gations have broadened the spectrum of disease with particular attenti on manifestations in infancy. Pathophysiological investigations have r evealed features that distinguish dopa-responsive dystonia from childh ood-onset parkinsonism. A pathological study has confirmed the 'develo pmental' nature of the disease. Finally, mutations causing the autosom al dominant form of dopa-responsive dystonia have been identified in t he gene coding for CTP cyclohydrolase I. Mutations in tyrosine hydroxy lase have been identified in two brothers and put forward as evidence of an autosomal recessive form of the disease.