What’s new in dystonia?

Shanker, Vicki; Bressman, Susan

doi:10.1007/s11910-009-0042-5

Cited by 7 publications

(4 citation statements)

References 55 publications

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“…Recent experimental and clinical studies have enhanced our understanding of the pathophysiology of dystonia, and deep brain stimulation (DBS) has opened a new area regarding its management [1–3]. Several authors have made detailed recommendations on the treatment for adult dystonia, but pediatric guidelines are lacking.…”

Section: Introductionmentioning

confidence: 99%

Treatment for dystonia in childhood

Roubertie

Mariani

Fernández-Álvarez

et al. 2012

Euro J of Neurology

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Management of childhood dystonia differs in certain respects from that of adult dystonia: (i) childhood dystonia is more often secondary than primary; (ii) mixed motor disorders are frequent; (iii) in children, the course of dystonia may be influenced by ongoing brain maturation and by the remarkable plasticity of the young brain; (iv) drug tolerability and effectiveness can be different in children; (v) the therapeutic strategy must be discussed with both the patient and his or her parents; and (vi) the child's education must be taken into account. Based on a systematic review of the literature through June 2011 and on our personal experience, we propose a therapeutic approach to childhood dystonia. After a detailed clinical evaluation and a comprehensive work-up to rule out a treatable cause of dystonia, symptomatic treatment may include various drugs, local botulinum toxin injections, and deep brain stimulation, in addition to rehabilitation.

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Section: Introductionmentioning

confidence: 99%

Treatment for dystonia in childhood

Roubertie

Mariani

Fernández-Álvarez

et al. 2012

Euro J of Neurology

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“…The DYT1 gene (wt-DYT1 gene) is located on chromosome 9q34. To date, two different mutations have been reported, and the mutant-DYT1 gene has been identified as the gene that causes DYT1 [1][2][3][4][5]. The most common mutation is a 3-bp deletion of GAG in exon 5, which results in the loss of a glutamic acid residue (Torsin ADE) in the C-terminal region of the Torsin A [1,6].…”

Section: Introductionmentioning

confidence: 99%

RNA Interference-Mediated Inhibition of Wild-Type Torsin A Expression Increases Apoptosis Caused by Oxidative Stress in Cultured Cells

Chen

Hu²,

Wu³

et al. 2010

Neurochem Res

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To assess RNAi mediated inhibition of the expression of wt-DYT1 on H(2)O(2)-induced toxicity in NIH 3T3 cells and primary cortical neurons. To detect the function of wild-type Torsin A and the effect of SiRNA on the wt-DYT1 gene. The shRNA expression vector was constructed by ligating annealed complementary shRNA oligonucleotides into the down-stream of the human U6 promoter (PU6) of the RNAi-ready pSIREN-Shuttle vector. Then, the pSIREN-Shuttle-DYT1-shRNA cassette was ligated to Adeno-X Viral DNA to construct the recombinant adenoviral vector pAd-DYT1-shRNA. Cultured cerebral cortical neurons and NIH 3T3 cells were transfected with pAd-DYT1-shRNA and pSIREN-Shuttle-DYT1-shRNA. We evaluated NIH 3T3 cells and neurons in the presence of oxidative stress using a TUNEL assay under different conditions. The knockdown efficacy of the DYT1 was confirmed by real-time RT-PCR and Western Blot analysis. After exposure to H(2)O(2,) the quantity of NIH 3T3 cells transfected with pSIREN-Shuttle-DYT1-shRNA, which stained positively in the TUNEL assay, was significantly higher than the cells transfected with pSIREN-Shuttle-negative control-shRNA. (44.85 +/- 1.81% vs. 8.98 +/- 2.73%, t = 26.168). There were significantly more apoptotic neurons infected with pAd-DYT1-shRNA (45.63 +/- 7.53%) than neurons infected with pAd-X-negative control-shRNA (17.33 +/- 2.43%) (t = 9.816). The observed silencing of wild-type Torsin A expression by DYT1-shRNA was sequence-specific. RNAi-mediated inhibition of the expression of wild-type Torsin A increases apoptosis caused by oxidative stress. It is reasonable to consider that wild-type Torsin A has the capacity to protect cortical neurons against oxidative stress, and in the development of DYT1-delta GAG-dystonia the neuroprotective function of wild-type Torsin A may be compromised.

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“…However, new evidence points out to areas outside of the basal ganglia, including cerebellotalamocortical circuitry and globus palidus internum. 5,6 Dystonia can be classified as acute and chronic. Acute dystonia usually occurs early in treatment, sometimes even after one dose of antipsychotic medication or with dose increase.…”

Section: Introductionmentioning

confidence: 99%

“…However, new evidence points out to areas outside of the basal ganglia, including cerebellotalamocortical circuitry and globus palidus internum. 5,6…”

Section: Introductionmentioning

confidence: 99%

Quetiapine Induced Acute Dystonia in a patient with History of severe Head Injury

Bota

Witkowski

2010

Rehabilitation Process and Outcome

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A patient with a history of severe head injury 10 years ago regained ability to walk after years of being bound to a wheelchair. During the last psychiatric hospitalization, quetiapine was increased to therapeutic dose using a normal titration. As a result the patient developed dystonia of multiple muscle groups requiring 4 days of hospitalization for remittance of symptoms. In this paper, we take a close look at the literature concerning extrapiramidal symptoms (EPS) in this context, and we suggest that in patients with a history of head injury, it is warranted to consider a slower titration of antipsychotic medications, including ones that are considered having a lower risk of EPS such as quetiapine.

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What’s new in dystonia?

Cited by 7 publications

References 55 publications

Treatment for dystonia in childhood

Treatment for dystonia in childhood

RNA Interference-Mediated Inhibition of Wild-Type Torsin A Expression Increases Apoptosis Caused by Oxidative Stress in Cultured Cells

Quetiapine Induced Acute Dystonia in a patient with History of severe Head Injury

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