News

December
15th
Minimal Change in the cytoplasmic calcium dynamics in striatal GABAergic neurons of a DYT1 dystonia knock-in mouse model.
Iwabuchi S, Koh JY, Wang K, Ho KW, Harata NC. - December 15, 2013

DYT1 dystonia is the most common hereditary form of primary torsion dystonia. This autosomal-dominant disorder is characterized by involuntary muscle contractions that cause sustained twisting and repetitive movements. It is caused by an in-frame deletion in the TOR1A gene, leading to the deletion of a glutamic acid residue in the torsinA protein.
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December
1st
Risks of common complications in deep brain stimulation surgery: management and avoidance.
Fenoy AJ, Simpson RK Jr. - December 1, 2013

Object Deep brain stimulation (DBS) surgery is increasingly prominent in the treatment of various disorders refractory to medication. Despite the procedure's efficacy, the community at large continues to be hesitant about presumed associated risks. The main object of this study was to assess the incidence of various surgical complications occurring both during and after DBS device implantation in a large population of patients with movement disorders in an effort to better quantify patient risk, define management plans, and develop methods for risk avoidance.
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December
1st
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP. - December 1, 2013

Dystonia is a common movement disorder. A number of monogenic causes have been identified. However, the majority of dystonia cases are not explained by single gene defects. Cervical dystonia is one of the commonest forms without genetic causes identified. This pilot study aimed to identify large effect-size risk loci in cervical dystonia. A genomewide association study (GWAS) was performed. British resident cervical dystonia patients of European descent were genotyped using the Illumina-610-Quad.
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December
1st
No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.
Charlesworth G, Bhatia KP, Wood NW. - December 1, 2013

We did not identify any mutations in GNAL that could be a cause of the dystonia in 192 cases drawn from the United Kingdom, including 84 familial cases. Our own data suggest that GNAL mutations do not represent a common cause of dystonia — in the U.K.
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December
1st
Challenges of making music: what causes musician's dystonia?
Schmidt A, Jabusch HC, Altenmüller E, Kasten M, Klein C. - December 1, 2013

Musician’s dystonia, a task-specific movement disorder, affects 1% to 2% of professional musicians and is thought to be environmentally acquired, related to years of practice.1,2 Indeed, professional musicians will have spent more than 10 000 hours on the instrument by the age of 20 years.3 Recently, a clustering of different types of dystonia was reported in the families of patients with musician’s dystonia, suggesting also a genetic contribution to the disease.4 However, the underlying molecular genetic fact
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News

Minimal Change in the cytoplasmic calcium dynamics in striatal GABAergic neurons of a DYT1 dystonia knock-in mouse model.

Risks of common complications in deep brain stimulation surgery: management and avoidance.

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.

Challenges of making music: what causes musician's dystonia?

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