Together with previous findings in the motor cortex and the spinal cord, the brainstem may lie closer to the pathogenesis of dystonia than the motor cortex in DYT1 gene carriers.
To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions.
To clarify the rationale for using rTMS of dorsal premotor cortex (PMd) to treat dystonia, we examined how the motor system reacts to an inhibitory form of rTMS applied to the PMd in healthy subjects and in a group of patients with focal hand dystonia and DYT1 gene carriers.
To analyze contribution of rs3842225 and rs1182 single nucleotide polymorphisms (SNP) in TOR1A gene, the causative gene for the DYT1 form of hereditary early-onset generalized dystonia, to the development of focal and segmental dystonia in Russian patients.
To address this issue, we measured sensorimotor activation at both the regional and network levels in carriers of the DYT1dystonia mutation and in control subjects.
Three genes (GCH1, THAP1, TOR1A) were associated with isolated generalized dystonia, whereas 2 (ANO3, ADCY5) gave rise to combined dystonia-myoclonus phenotypes.
This study aimed to assess how low frequency rTMS over the premotor area might affect abnormalities in spinal motor function in patients with generalised dystonia associated with the DYT1 gene mutation.
This review will summarize our current knowledge on the molecular and basic biological features of torsinA and its dysfunction when carrying disease-causing mutation, identifying future research priorities and proposing a model of dystonia pathogenesis that might extend beyond DYT1.
This review focuses on the eight monogenic primary dystonias, six of which are associated with an early-onset generalized phenotype (DYT1, 2, 4, 6, 16 and 17), while the remaining two are characterized by an adolescent- or adult-onset focal or segmental form of dystonia (DYT7 and 13).
This observation raises the possibility of genotype-phenotype correlations in DYT1 and indicates that the clinical spectrum of this type of dystonia might be broader then previous classic descriptions.
This control mechanism is offset by a TorsinA mutation implicated in the severe movement disorder DYT1dystonia, suggesting a critical role for the functional Torsin-cofactor interplay <i>in vivo</i>.
This case report presents the first molecularly diagnosed pedigree of an Australian family with DYT1dystonia, which presented as writer's cramp in the 15-year-old proband and two of his cousins.
This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.
They also suggest possible connections between the allelic polymorphism at residue 216 and the penetrance of DYT1dystonia, as well as a possible role for this polymorphism in related disease states.
They also suggest possible connections between the allelic polymorphism at residue 216 and the penetrance of DYT1dystonia, as well as a possible role for this polymorphism in related disease states.