News

April
14th
Differences in globus pallidus neuronal firing rates and patterns relate to different disease biology in children with dystonia.
McClelland VM, Valentin A, Rey HG, Lumsden DE, Elze MC, Selway R, Alarcon G, Lin JP - April 14, 2016

BACKGROUND: The pathophysiology underlying different types of dystonia is not yet understood. We report microelectrode data from the globus pallidus interna (GPi) and globus pallidus externa (GPe) in children undergoing deep brain stimulation (DBS) for dystonia and investigate whether GPi and GPe firing rates differ between dystonia types.
- Read more about Differences in globus pallidus neuronal firing rates and patterns relate to different disease biology in children with dystonia.
April
14th
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
Domingo A, Erro R, Lohmann K. - April 14, 2016

Dystonia is a genetically heterogenous disease and a prototype disorder where next-generation sequencing has facilitated the identification of new pathogenic genes. This includes the first two genes linked to recessively inherited isolated dystonia, that is, HPCA (hippocalcin) and COL6A3 (collagen VI alpha 3). These genes are proposed to underlie cases of the so-called DYT2-like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis.
- Read more about Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
April
14th
Clinimetric testing of the comprehensive cervical dystonia rating scale.
Comella CL, Perlmutter JS, Jinnah HA, Waliczek TA, Rosen AR, Galpern WR, Adler CA, Barbano RL, Factor SA, Goetz CG et al. - April 14, 2016

INTRODUCTION: The aim of this study was to test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability, and pain) now referred to as the revised Toronto Western Spasmodic Torticollis Scale-2; a newly developed psychiatric screening instrument; and the Cervical Dystonia Impact Profile-58 as a quality of life measure.
- Read more about Clinimetric testing of the comprehensive cervical dystonia rating scale.
April
14th
Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.
Picillo M, Lozano AM, Kou N, Munhoz RP, Fasano A - April 14, 2016

BACKGROUND: Deep brain stimulation (DBS) is an effective treatment for essential tremor (ET) and dystonia. After surgery, a number of extensive programming sessions are performed, mainly relying on neurologist's personal experience as no programming guidelines have been provided so far, with the exception of recommendations provided by groups of experts. Finally, fewer information is available for the management of DBS in ET and dystonia compared with Parkinson's disease.
- Read more about Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.
April
14th
Phenotypic insights into ADCY5-associated disease.
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, et al. - April 14, 2016

BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations.
- Read more about Phenotypic insights into ADCY5-associated disease.

News

Differences in globus pallidus neuronal firing rates and patterns relate to different disease biology in children with dystonia.

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.

Clinimetric testing of the comprehensive cervical dystonia rating scale.

Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.

Phenotypic insights into ADCY5-associated disease.

Pages