Learn More
BACKGROUND Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for(More)
This study describes a technique for measuring human grip forces exerted on a cylindrical object via a sensor array. Standardised resistor-based pressure sensor arrays for industrial and medical applications have been available for some time. We used a special 20 mm diameter grip rod that subjects could either move actively with their fingers in the(More)
This study addresses the influence of the cerebellum on the performance of an isometric precision grip task. For the task, in which the process of “picking a raspberry” is simulated, grip force and pull force had to be increased linearly for a duration of 1–5 s (pull phase) to accomplish the task skillfully. The performance of 11 patients suffering from(More)
The "raspberry task" represents a precision grip task that requires continuous adjustment of grip and pull forces. During this task subjects grip a specialized grip rod and have to increase the pull force linearly while the rod is locked. The aim of this study was to determine whether an associated, initially neutral cue is able to evoke pull-force changes(More)
The “raspberry task” represents a precision grip task that requires continuous adjustment of grip forces and pull forces. During this task, subjects use a specialised grip rod and have to increase the pull force linearly while the rod is locked. The positions of the fingers are unrestrained and freely selectable. From the finger positions and the geometry(More)
BACKGROUND An increasing number of rare, functionally relevant non-c.907_909delGAG (non-ΔGAG) variants in TOR1A have been recognized, associated with phenotypic expressions different from classic DYT1 childhood-onset generalized dystonia. Only recently, DYT1 genotype-phenotype correlations have been proposed, awaiting further elucidation in independent(More)
  • 1