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Brain, Vol. 123, No. 6, 1112-1121, June 2000
© 2000 Oxford University Press

Levodopa-responsive dystonia

GTP cyclohydrolase I or parkin mutations?

.

Johann Tassin*,1, Alexandra Dürr*,1,2,3, Anne-Marie Bonnet1,2, Roger Gil6, Marie Vidailhet1,5, Christoph B. Lücking1, Jean-Yves Goas7, Franck Durif13, Myriem Abada8, Bernard Echenne9, Jacques Motte10, Alain Lagueny11, Lucette Lacomblez4, Pierre Jedynak12, Barbara Bartholomé14, Yves Agid1,2 and Alexis Brice1,2,3

1 INSERM U289, 2 Fédération de Neurologie, 3 Consultation de Génétique, 4 Fédération de Neurologie Mazarin, Département de Pharmacologie, Hôpital de la Salpêtrière, 5 Service de Neurologie, Hôpital Saint Antoine Paris, 6 Service de Neurologie, Hôpital Jean Bernard, Poitiers, 7 Hôpital de la Cavale Blanche, Brest, 8 Fédération de Neurologie, Hôpital Gabriel Montpied, Clermont Ferrand, 9 Hôpital Saint Eloi, Neuropédiatrie, Montpellier, 10 Hôpital Américain, Neurologie Pédiatrique, Reims, 11 Service de Neurologie, CHU de Bordeaux, Hôpital du Haut-Lévêque, Pessac and 12 Service de Neurochirurgie, CMC Foch, Suresnes, France, 13 Service de Neurologie, Hôpital Ben-Aknoum, CHU Alger-Ouest, Algiers, Algeria and 14 Klinik für Kinder und Jugendmedizin im St Josef-Hospital-Universitätsklinik, Bochum, Germany

Correspondence to: Pr. Alexis Brice, INSERM U 289, Hôpital de la Salpêtrière, 47 bd de l'Hôpital, 75651 Paris Cedex 13, France E-mail: brice{at}ccr.jussieu.fr

Autosomal dominant DOPA-responsive dystonia (DRD) is usually caused by mutation in the gene encoding guanosine triphosphate-cyclohydrolase I (GTPCH I). We studied 22 families with a phenotype of levodopa-responsive dystonia by sequencing the six coding exons, the 5'-untranslated region and the exon–intron boundaries of the GTPCH I gene. Eleven heterozygous mutations were identified, including five missense mutations, one splice site mutation, two small deletions and two nonsense mutations, in 12 families that included 27 patients and 13 asymptomatic carriers. Six mutations were new and five had already been reported. Four of the mutations caused truncation of the GTPCH I protein. One family carried a base-pair change in the 5'-untranslated region, not detected in controls, that could be responsible for the phenotype. Three of the remaining 10 families had deletions in the parkin gene on chromosome 6, underlining how difficult it is to distinguish, in some cases, between DRD and parkin mutations. No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia.


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