Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins.
نویسندگان
چکیده
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. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.
منابع مشابه
Dopa-Responsive Dystonia after used Lamotrigine: Case reports
Epilepsy is a common neurologic disorder affecting approximately 1% of the population. The prevalence of active epilepsy in Kerman,Iran is 7.87/1000 individuals. The past decade has brought many advances to the treatment of epilepsy, including many new pharmacological agents. Lamotrigine is one of the new antiepileptic drugs. Lamotrigine has many side effects; the most important of which are al...
متن کاملDOPA RESPONSIVE DYSTONIA: A CASE REPORT
Dopa responsive dystonia (DRD) is a dystonic syndrome of childhood, usually affecting gait and subsequently developing into parkinsonism with a dramatic therapeutic response to levodopa. At the best of our recollection this is the first case in Iranian medical literature of a 13 year old boy, affected by this interesting, rare and treatable disease which can be easily diagnosed if clinicia...
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 کاملDopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
Dopa-responsive dystonia (DRD) was originally described in a series of Japanese patients, but is now increasingly recognized in other countries. Recently the GTP cyclohydrolase I (GTPCH) gene was isolated as the first causative gene for dopa-responsive dystonia (DRD). Mutations were identified in three Japanese families with autosomal dominantly inherited DRD and in one sporadic Japanese patien...
متن کاملWhole-genome sequencing for optimized patient management.
Whole-genome sequencing of patient DNA can facilitate diagnosis of a disease, but its potential for guiding treatment has been under-realized. We interrogated the complete genome sequences of a 14-year-old fraternal twin pair diagnosed with dopa (3,4-dihydroxyphenylalanine)-responsive dystonia (DRD; Mendelian Inheritance in Man #128230). DRD is a genetically heterogeneous and clinically complex...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Neurology
دوره 62 4 شماره
صفحات -
تاریخ انتشار 2004