Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prior studies suggest that obsessive-compulsive symptoms (OCS) and disorder (OCD) are co-morbid with dystonia. We tested if OCS/OCD is a clinical manifestation of the DYT1 dystonia mutation by interviewing members of families with an identified DYT1 mutation, and classifying by manifesting carriers (MC), non-manifesting carriers (NMC), and non-carriers (NC). We found that OCD/OCS are not increased in DYT1 mutation carriers compared with NC, nor is OCD associated with manifesting DYT1 dystonia.
 ...
PMID:Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene. 1706 75

Although myoclonus and dystonia are the hallmarks of myoclonus-dystonia (M-D), psychiatric features, particularly obsessive-compulsive disorder and alcohol dependence, have been reported in three families linked to chromosome 7q21. As the epsilon sarcoglycan (SGCE) gene for M-D was subsequently identified, we evaluated the relationship between psychiatric features and SGCE mutations in these original and two additional families and confirm that OCD and alcohol dependence are associated with manifesting mutated SGCE.
 ...
PMID:Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. 1729 18

Deep brain stimulation (DBS) has been approved by the FDA for use in the treatment of Parkinson's disease, essential tremor, and dystonia. Case reports and case series have reported significant psychiatric side effects in some individuals. The goal of this meta-analysis is to characterize the risks and benefits of DBS and to assess its possible use within the psychiatric setting. A search was conducted on PubMed, EBSCO, and PsycInfo in January 2006 that covered the time period 1 Jan 1996-30 Dec 2005. All identified articles were reviewed and those describing adverse events were further examined with a structured instrument. The initial searches yielded 2667 citations; 808 articles met inclusion criteria for the meta-analysis; 98.2% of studies that specifically assessed motor function reported some level of improvement. Most reported side effects were device or procedure related (e.g., infection and lead fracture). The prevalence of depression was 2-4%, mania 0.9-1.7%, emotional changes 0.1-0.2%, and the prevalence of suicidal ideation/suicide attempt was 0.3-0.7%. The completed suicide rate was 0.16-0.32%. In conclusion, DBS is an effective treatment for Parkinson's disease, dystonia, and essential tremor, and case reports suggest that major depression and OCD may also respond to DBS. Reported rates of depression, cognitive impairment, mania, and behavior change are low, but there is a high rate of suicide in patients treated with DBS, particularly with thalamic and GPi stimulation. Because of the high suicide rate, patients should be prescreened for suicide risk prior to DBS surgery. Additionally, patients should be monitored closely for suicidal behavior post-operatively.
 ...
PMID:Psychiatric and neuropsychiatric adverse events associated with deep brain stimulation: A meta-analysis of ten years' experience. 1858 79

High-frequency deep brain stimulation (HF-DBS) has become a widely used therapeutic method in the field of movement disorders for the treatment of Parkinson's disease, essential tremor or dystonia. New targets and indications are under evaluation in several other conditions such as cluster headache, obesity, epilepsy or psychiatric diseases (depression, OCD). However, the mechanisms of action of HF-DBS remain poorly understood. Herein we present a review of the literature and our current view of the question. The first part deals with the effects of stimulation itself on the different parts of the neuron and tries to answer the question of what is actually stimulated by DBS (cell bodies, dendrites or axons). The second part is devoted to the ortho- and antidromic effects of the stimulation. The third part more specifically focuses on the case of subthalamic nucleus stimulation. The target axons in the subthalamic area are discussed in the light of recent optogenetic studies. In conclusion, HF-DBS leads to a kind of functional deafferentation of the stimulated structure and to the modulation of cortical activity (both ortho and antidromically). Which effects are relevant to the therapeutic effects of DBS is still unclear. Further investigations are required especially regarding the corticosubthalamic pathways.
 ...
PMID:[Mechanisms of action of high-frequency deep brain stimulation. A review of the literature and current concepts]. 2246 40

In the last quarter of a century, DBS has become an established neurosurgical treatment for Parkinson's disease (PD), dystonia, and tremors. Improved understanding of brain circuitries and their involvement in various neurological and psychiatric illnesses, coupled with the safety of DBS and its exquisite role as a tool for ethical study of the human brain, have unlocked new opportunities for this technology, both for future therapies and in research. Serendipitous discoveries and advances in structural and functional imaging are providing abundant "new" brain targets for an ever-increasing number of pathologies, leading to investigations of DBS in diverse neurological, psychiatric, behavioral, and cognitive conditions. Trials and "proof of concept" studies of DBS are underway in pain, epilepsy, tinnitus, OCD, depression, and Gilles de la Tourette syndrome, as well as in eating disorders, addiction, cognitive decline, consciousness, and autonomic states. In parallel, ongoing technological development will provide pulse generators with longer battery longevity, segmental electrode designs allowing a current steering, and the possibility to deliver "on-demand" stimulation based on closed-loop concepts. The future of brain stimulation is certainly promising, especially for movement disorders-that will remain the main indication for DBS for the foreseeable future-and probably for some psychiatric disorders. However, brain stimulation as a technique may be at risk of gliding down a slippery slope: Some reports indicate a disturbing trend with suggestions that future DBS may be proposed for enhancement of memory in healthy people, or as a tool for "treatment" of "antisocial behavior" and for improving "morality."
 ...
PMID:Future of brain stimulation: new targets, new indications, new technology. 2412 27

More than a half of patients with OCD are classified as early-onset. Early-onset OCD has been indicated to be associated with a greater OCD global severity and more frequently comorbid with tic disorders and other obsessive-compulsive (OC) spectrum disorders, compared with late-onset OCD. Early-onset OCD patients with severe impairment caused by both OC symptoms and comorbid OC spectrum disorders may be identified as being refractory. Tic disorders and autism spectrum disorder (ASD) are child and adolescent psychiatric disorders included in OC spectrum disorders. OCD comorbid with chronic tic disorders including Tourette syndrome (TS) is specified as tic-related OCD. Tic-related OCD is characterized by the high prevalence of early-onset and sensory phenomena including "just right" feeling. Self-injurious behaviors (SIB) such as head banging and body punching often occur in patients with TS. The patients' concern about SIB is likely to trigger them, suggesting that an impulse-control problem is a feature of TS. More than a half of patients with TS have OC symptoms. When OC symptoms in patients with TS were assessed with a dimensional approach, symmetry dimension symptoms were found most frequently over the lifetime. On the other hand, the severity of aggression dimension symptoms was the most stable during the course among all dimensions. Aggression dimension symptoms also exhibited a close relationship with impairment of global functioning and sensory phenomena. This tendency may be characteristic of tic-related OCD. It is sometimes difficult to differentiate between OC symptoms and restricted, repetitive behaviors which are core symptoms of ASD. Recently, ego-dystonia and insight are considered non-essential to diagnose OCD, whereas high-functioning and/or atypical ASD is recognized as being more prevalent than previously estimated. In this situation, attention to comorbidity of OCD and ASD is increasing, and the prevalence of OCD in children and adolescents with ASD was reported to be about 20%. One study on the impact of comorbid ASD in adults with OCD indicated that comorbid patients had higher scores for the Autism Questionnaire (AQ) subscales of attention switching and imagination but showed little difference in OC symptoms except for the predominance of compulsion compared to patients with pure OCD. "Just right" feeling and impulse-control problems were evident in OC patients comorbid with both ASD and TS. Out of five adults with TS who underwent deep brain stimulation (DBS) because of refractory tics, four had impulse-control problems including SIB, leading to very severe physical injuries in two patients. After DBS, tics and SIB improved in all patients; however, one patient experienced their re-aggravation. To improve understanding of and treatment/support for refractory OCD, OC spectrum disorders should also be considered.
 ...
PMID:[Treatment-refractory OCD from the viewpoint of obsessive-compulsive spectrum disorders: impact of comorbid child and adolescent psychiatric disorders]. 2422 77

Movement disorders presenting in a psychiatric setting are usually caused by extrapyramidal side effects of antipsychotic medications. We present an unusual and rare case of orofacial dyskinesia, tongue dystonia, and choreatic movements in a 31-year-old Turkish man suffering from OCD.
 ...
PMID:[OCD and orofacial dyskinesia caused by a rare basal ganglia disorder]. 2534 52