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  Abstracts: Dopa-responsive dystonia (DRD): 4 new mutations of the GTP cyclohydrolase gene in British patients  
  September 06, 1995



O. Bandmann, C.D. Marsden and A.E. Harding
Institute of Neurology, Queen Square, London, U.K.  

2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995

Dopa-responsive dystonia typically presents with dystonia of the lower limbs in early childhood. However, patients presenting with focal dystonia in middle life or parkinsonism in later life have been described.
Nygaard et al. (1993) found linkage in families with DRD to chromosome 14q. Ichinose et al. (1994) identified GTP cyclohydrolase I as the causative gene for DRD and described four mutations in Japanese patients with this condition.
We have identified four new mutations in the GTP cyclohydrolase gene in one sporadic and three familial cases of British origin. All the mutations are in highly conserved regions of the GTP cyclohydrolase gene and either cause a non-conservative amino-acid change or create a stop-codon. In the familial cases, the mutation segregates with the disease.

Dopa-responsive dystonia (DRD)
GTP cyclohydrolase

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