Dyskinesias as a limiting factor in the treatment of Segawa disease.

ABSTRACT: Patients with autosomal dominant Segawa disease (dopa-responsive dystonia) demonstrate excellent, sustained response to low-dose levodopa. In contrast, the development of levodopa limiting treatment dyskinesias is thought to support the diagnosis of other early-onset dystonia/parkinsonism syndromes. We describe an atypical phenotype of persistent treatment limiting dyskinesias in a family with prominent brachial dystonia and a novel GCH1 mutation. The pedigree comprised two affected members: the proband (aged 13 years) and her mildly affected mother (aged 48 years). A phenylalanine loading test, cerebrospinal fluid for biogenic amines and pterins, guanosine triphosphate cyclohydrolase I enzyme activity, and direct exonic sequencing of GCH1 revealed a novel mutation (c.235_240delCTGAGC [p.L

SUBMITTER: Lopez-Laso E 

PROVIDER: S-EPMC3361688 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature