Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Neurology"
DOI: 10.1001/jamaneurol.2017.0666
Abstract: Importance Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective To elucidate the causal genetic variant in a large US family… read more here.
Keywords: dopa responsive; chromosomal rearrangements; family; responsive dystonia ... See more keywords
[Anesthesia in patients with dopa-responsive dystonia (Segawa syndrome) : Presentation of the pathophysiology, clinical picture and approach based on two case reports].
Sign Up to like & getrecommendations! Published in 2020 at "Der Anaesthesist"
DOI: 10.1007/s00101-020-00898-0
Abstract: Segawa syndrome (dopa-responsive dystonia [DRD]) is a rare neurometabolic disorder characterized by progressive dystonia, diurnal variation and tremors. It is caused by an enzymatic defect (a mutation of the GTPCH1 gene located on chromosome 14q) in the synthesis… read more here.
Keywords: responsive dystonia; dopa responsive; dystonia; case ... See more keywords
Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation.
Sign Up to like & getrecommendations! Published in 2017 at "Neurologia i neurochirurgia polska"
DOI: 10.1016/j.pjnns.2016.07.013
Abstract: OBJECTIVE Dopa-responsive dystonia (DRD) is a rare form of hereditary movement disorder with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa. Mutations in the… read more here.
Keywords: genotype phenotype; responsive dystonia; dopa responsive; dystonia ... See more keywords
A Case of Dopa Responsive Dystonia Presenting as Isolated Foot Dystonia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurosciences in Rural Practice"
DOI: 10.1055/s-0042-1745818
Abstract: Dystonia is an important presentation of extrapyramidal disorders, defined as abnormal involuntary sustained or intermittent twisting, curling, or other patterned movements of body parts. 1 Inherited dystonias are common in the younger age. Lower limb… read more here.
Keywords: dopa responsive; case dopa; foot dystonia; dystonia ... See more keywords
A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2016.1236381
Abstract: Dopa-responsive dystonia (DRD) comprises a heterogeneous group of movement disorders. A limited number of studies of Chinese patients with DRD have been reported. In the present study, we investigated the clinical and genetic features of… read more here.
Keywords: responsive dystonia; dopa responsive; chinese patients; tyrosine hydroxylase ... See more keywords
Relevance of Fluorodopa PET Scan in Dopamine Responsive Dystonia and Juvenile Parkinsonism: A Systematic Review
Sign Up to like & getrecommendations! Published in 2022 at "Neurology International"
DOI: 10.3390/neurolint14040079
Abstract: Background: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have… read more here.
Keywords: juvenile parkinsonism; responsive dystonia; pet scan; dopamine responsive ... See more keywords