SHORT REPORT Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
نویسندگان
چکیده
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 DRD was definite or probable were heterozygous for a GCH1 gene deletion. However, eight of nine possibly clinically affected members did not carry the GCH1 mutation. Conclusions: Great care must be taken in diagnosing DRD even in families with the classic phenotype, because of potential phenocopies of the disease.
منابع مشابه
Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
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 o...
متن کاملMutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
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 (...
متن کاملNeuronal substrate of cognitive impairment in post-stroke dementia.
large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry 2002; 72: 801–4. Grünewald A, Kasten M, Ziegler A, Klein C. Next-generation phenotyping using the parkin example: time to catch up with genetics. JAMA Neurol 2013; 70: 1186–91. Klepitskaya O, Neuwelt AJ, Nguyen T, Leehey M. Primary dystonia misinterpreted as Parkinson disease:...
متن کاملDopa-responsive dystonia and Tourette syndrome in a large Danish family.
BACKGROUND Guanosine triphosphate cyclohydrolase I (GTPCH) catalyzes the first step in the synthesis of tetrahydrobiopterin (BH4). Autosomal dominantly inherited defects in the GTPCH gene (GCH1) cause a form of dystonia that is responsive to treatment with levodopa (dopa-responsive dystonia [DRD]). OBJECTIVE To investigate molecular and clinical aspects of DRD in a large Danish family. METH...
متن کاملA Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family
BACKGROUND DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late parkinsonian manifestations and/or dystonic features. Genetically, these patients have been described as having a wide array of independent mutations in the guanosine triphosphate cyclohydrolase 1 gene (GCH1), and these patients may also have a wide array of clinical manifestations. METHODS A Col...
متن کامل