Article
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Brain : a journal of neurology - 1 Jun 2000
Tassin J, Dürr A, Bonnet A M, Gil R, Vidailhet M, Lücking C B, Goas J Y, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y, Brice A
Abstract excerpt
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...
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