News

October
28th
A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia.
Schjerling L, Hjermind LE, Jespersen B, Madsen FF, Brennum J, Jensen SR, Lşkkegaard A, Karlsborg M. - October 28, 2013

Object The authors' aim was to compare the subthalamic nucleus (STN) with the globus pallidus internus (GPi) as a stimulation target for deep brain stimulation (DBS) for medically refractory dystonia. Methods In a prospective double-blind crossover study, electrodes were bilaterally implanted in the STN and GPi of 12 patients with focal, multifocal, or generalized dystonia. Each patient was randomly selected to undergo initial bilateral stimulation of either the STN or the GPi for 6 months, followed by bilateral stimulation of the other nucleus for another 6 months.
- Read more about A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia.
October
27th
The Nuclear Envelope Protein, LAP1B, Is a Novel Protein Phosphatase 1 Substrate.
Santos M, Rebelo S, Van Kleeff PJ, Kim CE, Dauer WT, Fardilha M, da Cruz E Silva OA, da Cruz E Silva EF. - October 27, 2013

Protein phosphatase 1 (PP1) binding proteins are quintessential regulators, determining substrate specificity and defining subcellular localization and activity of the latter. Here, we describe a novel PP1 binding protein, the nuclear membrane protein lamina associated polypeptide 1B (LAP1B), which interacts with the DYT1 dystonia protein torsinA. The PP1 binding domain in LAP1B was here identified as the REVRF motif at amino acids 55-59.
- Read more about The Nuclear Envelope Protein, LAP1B, Is a Novel Protein Phosphatase 1 Substrate.
October
27th
The endophenotype and the phenotype: Temporal discrimination and adult-onset dystonia.
Hutchinson M, Kimmich O, Molloy A, Whelan R, Molloy F, Lynch T, Healy DG, Walsh C, Edwards MJ, Ozelius L, Reilly RB, O'Riordan S - October 27, 2013

The pathogenesis and the genetic basis of adult-onset primary torsion dystonia remain poorly understood. Because of markedly reduced penetrance in this disorder, a number of endophenotypes have been proposed; many of these may be epiphenomena secondary to disease manifestation. Mediational endophenotypes represent gene expression; the study of trait (endophenotypic) rather than state (phenotypic) characteristics avoids the misattribution of secondary adaptive cerebral changes to pathogenesis.
- Read more about The endophenotype and the phenotype: Temporal discrimination and adult-onset dystonia.
October
23rd
Recipients of the 2013-2015 Call for FDR Collaborative Research Projects in Dystonia
Foundation for Dystonia Research - October 23, 2013
- Read more about Recipients of the 2013-2015 Call for FDR Collaborative Research Projects in Dystonia
October
22nd
New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.
Goodchild RE, Grundmann K, Pisani A. - October 22, 2013

Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary dystonia genes were identified that provide new insight into dystonia pathogenesis. The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). Furthermore, this pathway is also dysfunctional and pathogenically linked to mTOR signaling in L-DOPA-induced dyskinesias (LID).
- Read more about New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.

News

A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia.

The Nuclear Envelope Protein, LAP1B, Is a Novel Protein Phosphatase 1 Substrate.

The endophenotype and the phenotype: Temporal discrimination and adult-onset dystonia.

Recipients of the 2013-2015 Call for FDR Collaborative Research Projects in Dystonia

New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.

Pages