scholarly journals New Perspectives on Dystonia

2003 ◽  
Vol 30 (S1) ◽  
pp. S34-S44 ◽  
Author(s):  
Mélanie Langlois ◽  
Francois Richer ◽  
Sylvain Chouinard
Keyword(s):  
Age Of Onset ◽  
Clinical Investigation ◽  
Genetic Data ◽  
Therapeutic Agents ◽  
Anatomical Distribution ◽  
Beneficial Effects ◽  
Physiological Abnormalities ◽  
Primary Torsion ◽  
Primary Torsion Dystonia ◽  
Deep Brain

Dystonia is a syndrome of sustained muscular contractions with numerous underlying etiologies. This review examines the varied phenomenology of dystonias, its evolving classification including recent genetic data as well as its clinical investigation and treatment. Although age of onset, anatomical distribution and family history are key elements of the investigation of dystonia, classification increasingly relies on etiologic and genetic criteria. Physiological abnormalities in striatocortical circuits are common in dystonia but the pathophysiology is still unclear. In recent years, a great deal has been learned on the more common primary dystonias such as primary torsion dystonia and on dystonia-plus syndromes such as dopamine responsive dystonia. Treatment of dystonia has also evolved and there are now a number of therapeutic agents with clear beneficial effects including anticholinergics, benzodiazepines, and botulinum toxin and there is growing interest in neurofunctional surgery including deep brain stimulation.

Changes in forearm reciprocal inhibition following pallidal stimulation for dystonia

Neurology ◽  
2006 ◽  
Vol 66 (7) ◽  
pp. 1091-1093 ◽  
Author(s):  
S. Tisch ◽  
P. Limousin ◽  
J. C. Rothwell ◽  
P. Asselman ◽  
L. Zrinzo ◽  
...  
Keyword(s):  
Reciprocal Inhibition ◽  
Progressive Increase ◽  
Functional Reorganization ◽  
Pallidal Stimulation ◽  
Spinal Inhibition ◽  
Pallidal Deep Brain Stimulation ◽  
Primary Torsion ◽  
Primary Torsion Dystonia ◽  
Deep Brain

The authors recorded forearm H reflex reciprocal inhibition and clinical outcome in eight patients with primary torsion dystonia before and 1, 3, and 6 months after pallidal deep brain stimulation (DBS). There was progressive increase in reciprocal inhibition after surgery, which correlated with clinical improvement. The authors conclude that pallidal DBS for dystonia results in functional reorganization of the nervous system, which includes a long-term increase in spinal inhibition.

Shorter Disease Duration Correlates With Improved Long-term Deep Brain Stimulation Outcomes in Young-Onset DYT1 Dystonia

Neurosurgery ◽  
2012 ◽  
Vol 71 (2) ◽  
pp. 325-330 ◽  
Author(s):  
Leslie C. Markun ◽  
Philip A. Starr ◽  
Ellen L. Air ◽  
William J. Marks ◽  
Monica M. Volz ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Torsion Dystonia ◽  
Duration Of Disease ◽  
Primary Torsion ◽  
Primary Torsion Dystonia ◽  
Deep Brain

Abstract BACKGROUND: Treatment with deep brain stimulation (DBS) of the globus pallidus internus in children with DYT1 primary torsion dystonia is highly effective; however, individual response to stimulation is variable, and a greater understanding of predictors of long-term outcome is needed. OBJECTIVE: To report the long-term outcomes of subjects with young-onset DYT1 primary torsion dystonia treated with bilateral globus pallidus DBS. METHODS: Fourteen subjects (7 male, 7 female) treated consecutively from 2000 to 2010 at our center were included in this retrospective study. The Burke-Fahn-Marsden Dystonia Rating Scale was performed at baseline and at 1, 2, and up to 6 years postoperatively. RESULTS: Pallidal DBS was well tolerated and highly effective, with mean Burke-Fahn-Marsden Dystonia Rating Scale movement scores improving from baseline by 61.5% (P < .001) at 1 year, 64.4% (P < .001) at 2 years, and 70.3% (P < .001) at the final follow-up visit (mean, 32 months; range, 7–77 months). Disability scores also improved significantly. Multiple linear regression analysis revealed a significant influence of duration of disease as a predictor of percent improvement in Burke-Fahn-Marsden Dystonia Rating Scale movement score at long-term follow-up (duration of disease, P < .05). Subjects with fixed orthopedic deformities (4) had less improvement in these regions. Location of the active DBS electrode used at final follow-up visit was not predictive of clinical outcome. CONCLUSION: Our findings highlight the sustained benefit from DBS and the importance of early referral for DBS in children with medically refractory DYT1 primary torsion dystonia, which can lead to improved long-term benefits.

Sixty hertz pallidal deep brain stimulation for primary torsion dystonia

Neurology ◽  
2007 ◽  
Vol 69 (7) ◽  
pp. 681-688 ◽  
Author(s):  
R. L. Alterman ◽  
J. Miravite ◽  
D. Weisz ◽  
J. L. Shils ◽  
S. B. Bressman ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Torsion Dystonia ◽  
Pallidal Deep Brain Stimulation ◽  
Primary Torsion ◽  
Primary Torsion Dystonia ◽  
Deep Brain

Computer Assistance in the Clinical Investigation of Pulmonary Function Studies

1973 ◽  
Vol 12 (02) ◽  
pp. 102-107 ◽  
Author(s):  
D. J. Protti ◽  
Nancy Craven ◽  
A. Naimark ◽  
R. M. Cherniack
Keyword(s):  
Information System ◽  
Pulmonary Function ◽  
Additional Data ◽  
Normal Values ◽  
Clinical Investigation ◽  
Regression Equations ◽  
Beneficial Effects ◽  
Computer Assistance ◽  
Manual Methods

A previously described comprehensive respiratory information system (CRIS) has been changed to introduce new spirometric tests which are sensitive to minor abnormalities, revise on the basis of additional data the regression equations which define normal values to various parameters of pulmonary function and refine the system’s interpretation scheme. The beneficial effects of transferring the system from a large IBM 360/65 to a small CDC 1700 are presented. An analysis of the costs of processing routine pulmonary function studies reveals that a 40°/o saving is realized when a computer is used in comparison to the use of the usual manual methods.

scholarly journals Berberine Prevents Disease Progression of Nonalcoholic Steatohepatitis through Modulating Multiple Pathways

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 210
Author(s):  
Yanyan Wang ◽  
Yun-Ling Tai ◽  
Derrick Zhao ◽  
Yuan Zhang ◽  
Junkai Yan ◽  
...  
Keyword(s):  
Bile Acid ◽  
Mouse Model ◽  
Disease Progression ◽  
Nonalcoholic Steatohepatitis ◽  
Noncoding Rna ◽  
Metabolic Diseases ◽  
Immune Cell ◽  
Stellate Cell ◽  
Clinical Investigation ◽  
Beneficial Effects

Background and Aims: The disease progression of nonalcoholic fatty liver disease (NAFLD) from simple steatosis (NAFL) to nonalcoholic steatohepatitis (NASH) is driven by multiple factors. Berberine (BBR) is an ancient Chinese medicine and has various beneficial effects on metabolic diseases, including NAFLD/NASH. However, the underlying mechanisms remain incompletely understood due to the limitation of the NASH animal models used. Methods: A high-fat and high-fructose diet-induced mouse model of NAFLD, the best available preclinical NASH mouse model, was used. RNAseq, histological, and metabolic pathway analyses were used to identify the potential signaling pathways modulated by BBR. LC–MS was used to measure bile acid levels in the serum and liver. The real-time RT-PCR and Western blot analysis were used to validate the RNAseq data. Results: BBR not only significantly reduced hepatic lipid accumulation by modulating fatty acid synthesis and metabolism but also restored the bile acid homeostasis by targeting multiple pathways. In addition, BBR markedly inhibited inflammation by reducing immune cell infiltration and inhibition of neutrophil activation and inflammatory gene expression. Furthermore, BBR was able to inhibit hepatic fibrosis by modulating the expression of multiple genes involved in hepatic stellate cell activation and cholangiocyte proliferation. Consistent with our previous findings, BBR’s beneficial effects are linked with the downregulation of microRNA34a and long noncoding RNA H19, which are two important players in promoting NASH progression and liver fibrosis. Conclusion: BBR is a promising therapeutic agent for NASH by targeting multiple pathways. These results provide a strong foundation for a future clinical investigation.

Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A ( DYT1 ) gene

Neurogenetics ◽  
2002 ◽  
Vol 4 (2) ◽  
pp. 105-106 ◽  
Author(s):  
Takeshi Ikeuchi ◽  
Yoshiko Nomura ◽  
Masaya Segawa ◽  
Laurie Ozelius ◽  
Takayoshi Shimohata ◽  
...  
Keyword(s):  
Founder Effects ◽  
Torsion Dystonia ◽  
Dyt1 Gene ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

Regional metabolism in primary torsion dystonia: Effects of penetrance and genotype

Neurology ◽  
2004 ◽  
Vol 62 (8) ◽  
pp. 1384-1390 ◽  
Author(s):  
M. Carbon ◽  
S. Su ◽  
V. Dhawan ◽  
D. Raymond ◽  
S. Bressman ◽  
...  
Keyword(s):  
Torsion Dystonia ◽  
Regional Metabolism ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

Genetics of Primary Torsion Dystonia

2010 ◽  
Vol 10 (3) ◽  
pp. 199-206 ◽  
Author(s):  
Norbert Brüggemann ◽  
Christine Klein
Keyword(s):  
Torsion Dystonia ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

Evaluating and Optimizing Dentato-Rubro-Thalamic-Tract Deterministic Tractography in Deep Brain Stimulation for Essential Tremor

2021 ◽  
Author(s):  
Maarten Bot ◽  
Anne-Fleur van Rootselaari ◽  
Vincent Odekerken ◽  
Joke Dijk ◽  
Rob M A de Bie ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Essential Tremor ◽  
Brain Stimulation ◽  
Red Nucleus ◽  
Brain Regions ◽  
Superior Cerebellar Peduncle ◽  
Beneficial Effects ◽  
Ventral Intermediate Nucleus ◽  
Cerebellar Peduncle ◽  
Deep Brain

Abstract BACKGROUND Dentato-rubro-thalamic tract (DRT) deep brain stimulation (DBS) suppresses tremor in essential tremor (ET) patients. However, DRT depiction through tractography can vary depending on the included brain regions. Moreover, it is unclear which section of the DRT is optimal for DBS. OBJECTIVE To evaluate deterministic DRT tractography and tremor control in DBS for ET. METHODS After DBS surgery, DRT tractography was conducted in 37 trajectories (20 ET patients). Per trajectory, 5 different DRT depictions with various regions of interest (ROI) were constructed. Comparison resulted in a DRT depiction with highest correspondence to intraoperative tremor control. This DRT depiction was subsequently used for evaluation of short-term postoperative adverse and beneficial effects. RESULTS Postoperative optimized DRT tractography employing the ROI motor cortex, posterior subthalamic area (PSA), and ipsilateral superior cerebellar peduncle and dentate nucleus best corresponded with intraoperative trajectories (92%) and active DBS contacts (93%) showing optimal tremor control. DRT tractography employing a red nucleus or ventral intermediate nucleus of the thalamus (VIM) ROI often resulted in a more medial course. Optimal stimulation was located in the section between VIM and PSA. CONCLUSION This optimized deterministic DRT tractography strongly correlates with optimal tremor control. This technique is readily implementable for prospective evaluation in DBS target planning for ET.

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