Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
نویسندگان
چکیده
Dopa-responsive dystonia (DRD) is an autosomal dominant neurologic disorder characterized by incomplete penetrance and high variability of its phenotypic expression. The usual phenotype is defined by early-onset isolated dystonia, predominant in the lower limb, with marked diurnal fluctuations and a dramatic and sustained response to low doses of L-DOPA. We report 2 members of the same family (mother and daughter) with a nonsense heterozygous mutation (c.706G>T; p.Glu236*) in the GCH1 gene and having DRD with phenotypic variability.
منابع مشابه
A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family
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The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamili...
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We performed a systematic study on the frequency of point mutations and deletions of the gene GCH1 in dopa-responsive dystonia (DRD). A total of 136 dystonia patients were studied. Fifty of these had a sustained response to oral L-Dopa therapy (group 1: definite diagnosis of DRD), whereas the response to L-Dopa was incomplete or not tested in 86 patients (group 2: possible diagnosis of DRD). We...
متن کاملDopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral palsy or spastic diplegia due to phenotypic variation. Here we report a young woman with DRD who were severely disabled and misdiagnosed as cerebral palsy for over 10 yr. A small do...
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Background: Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described. Objective: To study a large Canadian family with presumed DRD. Methods: The clinical features of the family were collected before molecular genetic mutational analysis. Results: All nine individuals in whom a clinical diagnosis of ...
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عنوان ژورنال:
دوره 4 شماره
صفحات -
تاریخ انتشار 2018