Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission.
Our goal was to characterize patients with inherited and isolated dystonia and determine the frequency of mutations responsible for DYT1 and DYT6 in Brazilian patients.
In the present study, we used hyperkinetic transgenic mice generated as a model of DYT1dystonia and compared the basal ganglia dopaminergic system between transgenic mice exhibiting hyperkinesia (affected), transgenic mice not showing movement abnormalities (unaffected), and non-transgenic littermates.
Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A.
Our findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene.
Early onset in a limb and progression toward a generalized form, but not family history of dystonia, are indicative of DYT1dystonia in Polish dystonic individuals.
There is no evidence of neurodegeneration in DYT1dystonia, which suggests that mutant TA leads to functional neuronal abnormalities, leading to dystonic movements.