Update on dystonia

Albanese, Alberto; Lalli, Stefania

doi:10.1097/wco.0b013e3283550c22

Cited by 28 publications

(15 citation statements)

References 71 publications

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“…Dystonias are a heterogeneous group of disorders characterized by sustained involuntary muscle contractions, frequently causing repetitive twisting movements, abnormal postures, and pain (Albanese and Lalli, 2009, 2012). Localized injections of BoNT provide a transient symptomatic relief in primary and nonprimary focal dystonia syndromes, as demonstrated by several randomized controlled studies and by a large number of uncontrolled studies (Hallett et al, 2013; Guidubaldi et al., 2014).…”

Section: Pharmacologymentioning

confidence: 99%

Botulinum Neurotoxins: Biology, Pharmacology, and Toxicology

et al. 2017

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The study of botulinum neurotoxins (BoNT) is rapidly progressing in many aspects. Novel BoNTs are being discovered owing to next generation sequencing, but their biologic and pharmacological properties remain largely unknown. The molecular structure of the large protein complexes that the toxin forms with accessory proteins, which are included in some BoNT type A1 and B1 pharmacological preparations, have been determined. By far the largest effort has been dedicated to the testing and validation of BoNTs as therapeutic agents in an ever increasing number of applications, including pain therapy. BoNT type A1 has been also exploited in a variety of cosmetic treatments, alone or in combination with other agents, and this specific market has reached the size of the one dedicated to the treatment of medical syndromes. The pharmacological properties and mode of action of BoNTs have shed light on general principles of neuronal transport and protein-protein interactions and are stimulating basic science studies. Moreover, the wide array of BoNTs discovered and to be discovered and the production of recombinant BoNTs endowed with specific properties suggest novel uses in therapeutics with increasing disease/symptom specifity. These recent developments are reviewed here to provide an updated picture of the biologic mechanism of action of BoNTs, of their increasing use in pharmacology and in cosmetics, and of their toxicology.

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Section: Pharmacologymentioning

confidence: 99%

Botulinum Neurotoxins: Biology, Pharmacology, and Toxicology

et al. 2017

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“…Primary dystonia is a very complex disease spectrum, in which a pathological phenomena elicits a cascade of events encompassing different networks and molecular systems, from dopamine to GABA (32, 33) and also, as recently shown, acetylcholine (ACh) (34). In pD, PET and appropriate radiotracers have been used, in particular, for the assessment of dopaminergic system to investigate whether alterations in striatal receptor binding are showed by patients.…”

Section: Primary Dystoniamentioning

confidence: 99%

PET Neuroimaging: Insights on Dystonia and Tourette Syndrome and Potential Applications

2014

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Primary dystonia (pD) is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric developmental disorder characterized by motor and phonic tics, which could progress to behavioral changes. GTS and obsessive–compulsive disorders are often seen in comorbidity, also suggesting that a possible overlap in the pathophysiological bases of these two conditions. PET techniques are of considerable value in detecting functional and molecular abnormalities in vivo, according to the adopted radioligands. For example, PET is the unique technique that allows in vivo investigation of neurotransmitter systems, providing evidence of changes in GTS or pD. For example, presynaptic and post-synaptic dopaminergic studies with PET have shown alterations compatible with dysfunction or loss of D2-receptors bearing neurons, increased synaptic dopamine levels, or both. Measures of cerebral glucose metabolism with 18F-fluorodeoxyglucose PET (18F-FDG PET) are very sensitive in showing brain functional alterations as well. 18F-FDG PET data have shown metabolic changes within the cortico-striato-pallido-thalamo-cortical and cerebello-thalamo-cortical networks, revealing possible involvement of brain circuits not limited to basal ganglia in pD and GTS. The aim of this work is to overview PET consistent neuroimaging literature on pD and GTS that has provided functional and molecular knowledge of the underlying neural dysfunction. Furthermore, we suggest potential applications of these techniques in monitoring treatments.

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“…Dystonia is a complex syndrome characterized by motor dysfunction in a number of neurological diseases (for review see Albanese and Lalli, 2012). Dystonia is clinically diagnosed with physical symptoms such as involuntary twisting movements and abnormal postures (Fahn, 1984; Fung et al, 2013; Albanese et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

“…Functionally torsinAΔE is believed to reduce activity of wild-type torsinA thereby weakening the connection between the cytoskeleton and the outer nuclear membrane and the contiguous ER membrane (Nery et al, 2008; Atai et al, 2012). The relationship between deficient cell migration and the abnormalities in synaptic plasticity found in dystonia remains to be elucidated (Albanese and Lalli, 2012; Quartarone and Pisani, 2011). The current study focuses on quantitation of changes in cell migration in DYT1 patient fibroblasts as a model for delayed migration documented for neurons in DYT1 knock-out embryos (McCarthy et al., 2012).…”

Section: Introductionmentioning

confidence: 99%

Microfluidic platform to evaluate migration of cells from patients with DYT1 dystonia

Nery

Hora

Atai

et al. 2014

Journal of Neuroscience Methods

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Background Microfluidic platforms for quantitative evaluation of cell biologic processes allow low cost and time efficient research studies of biological and pathological events, such as monitoring cell migration by real-time imaging. In healthy and disease states, cell migration is crucial in development and wound healing, as well as to maintain the body's homeostasis. New Method The microfluidic chambers allow precise measurements to investigate whether fibroblasts carrying a mutation in the TOR1A gene, underlying the hereditary neurologic disease - DYT1 dystonia, have decreased migration properties when compared to control cells. Results We observed that fibroblasts from DYT1 patients showed abnormalities in basic features of cell migration, such as reduced velocity and persistence of movement. Comparison with Existing Method The microfluidic method enabled us to demonstrate reduced polarization of the nucleus and abnormal orientation of nuclei and Golgi inside the moving DYT1 patient cells compared to control cells, as well as vectorial movement of single cells. Conclusion We report here different assays useful in determining various parameters of cell migration in DYT1 patient cells as a consequence of the TOR1A gene mutation, including a microfluidic platform, which provides a means to evaluate real-time vectorial movement with single cell resolution in a three-dimensional environment.

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Update on dystonia

Cited by 28 publications

References 71 publications

Botulinum Neurotoxins: Biology, Pharmacology, and Toxicology

Botulinum Neurotoxins: Biology, Pharmacology, and Toxicology

PET Neuroimaging: Insights on Dystonia and Tourette Syndrome and Potential Applications

Microfluidic platform to evaluate migration of cells from patients with DYT1 dystonia

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