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Neuropediatrics 2002; 33(1): 1-5
DOI: 10.1055/s-2002-23590
Review Article

Georg Thieme Verlag Stuttgart · New York

Dopa-Responsive Dystonia - The Story so Far

O. Bandmann1 , N. W. Wood2
  • 1 Department of Neurology, Philipps-University, Marburg, Germany
  • 2 University Department of Neurology, Institute of Neurology, London, UK
Further Information

Publication History

Publication Date:
03 April 2002 (online)

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Abstract

Dopa-responsive dystonia (DRD) is an eminently treatable condition and its recognition is therefore of crucial importance. In classical cases, the disease manifests in early childhood with walking problems due to dystonia of the lower limbs. The dystonia is frequently accompanied by “parkinsonian” features such as reduced facial expression or slowing of fine finger movements. Biochemically, the disorder is typically characterized by low levels of the neurotransmitter metabolite homovanillic acid and reduced levels of neopterin and tetrahydrobiopterin (BH4) in the cerebrospinal fluid. This is due to heterozygote mutations of the GTP cyclohydrolase I gene, which is the rate-limiting enzyme in the synthesis of BH4. BH4 is an essential co-factor for tyrosine hydroxylase (TH), the rate-limiting enzyme in the synthesis of dopamine. Reduced levels of BH4 lead to the dopamine-deficit syndrome DRD because of reduced TH activity. Other genes implicated in the pathogenesis of this disorder are the TH gene itself and the parkin gene. This article summarizes all relevant aspects of DRD including recent advances in the genetics of this disorder and the widening phenotype. Particular emphasis is given to clinically relevant aspects such as diagnostic difficulties and atypical presentations in infancy and early childhood.

Key words

Dopa-Responsive Dystonia - GTP Cyclohydrolase I - L-Dopa - Tyrosine Hydroxylase - Tetrahydrobiopterin

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Dr. O. Bandmann

Department of Neurology, Philipps University Marburg

Rudolf-Bultmann-Str. 8

35033 Marburg

Germany

Email: Bandmann@mailer.uni-marburg.de

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