نتایج جستجو برای: dyt6 dystonia
تعداد نتایج: 6616 فیلتر نتایج به سال:
Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together as "DYT2 dystonia," have appeared in the scientific literature for several decades, but no genetic cause has been identified to date. Using a combination of homozygosity mapping and whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia, we identified homozygo...
Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias are currently unknown. Here, we discover a role for deficient eIF2α signaling in DYT1 dystonia, a rare inherited generalized form, through a genome-wide RNAi screen. Subsequent experiments including patient-derived ...
OBJECTIVES To investigate the hypothesis that GTP cyclohydrolase I (GCH1) mutations are responsible for the phenotype of highly anticholinergic responsive dystonia in patients with apparent primary torsion dystonia. METHODS From 107 British patients with clinically diagnosed primary torsion dystonia, seven patients were identified with an excellent response to anticholinergic drugs. All six e...
Task-specific dystonia is a form of isolated focal dystonia with the peculiarity of being displayed only during performance of a specific skilled motor task. This distinctive feature makes task-specific dystonia a particularly mysterious and fascinating neurological condition. In this review, we cover phenomenology and its increasingly broad-spectrum risk factors for the disease, critically rev...
In 1911, Oppenheim coined the term ‘dystonia’ to describe disordered motor control, characterised by an association of hypotonia and tonic muscle spasm. Focal hand dystonia is one form of this disorder, in which symptoms are often task-specific and occur during skilled movements such as writing (writer’s cramp) or playing a musical instrument (musician’s cramp). Much research has been conducted...
The authors investigated the prevalence of DIS-ascertained DSM-III psychiatric disorders occurring in 28 patients with dystonia and 28 patients with Parkinson's Disease (PD). In patients with dystonia, lifetime prevalences of major depression (25.0%), bipolar disorder (7.1%), atypical bipolar disorder (7.1%), social phobia (17.9%), and generalized anxiety disorder (25.0%) were significantly mor...
Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with ...
Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and swallowing, pain and respiratory distress. Several case reports and one case seri...
A wide range of observations suggest that sensory inputs play a significant role in dystonia. For example, the map of the hand representation in the primary sensory cortex (area 3b) is altered in monkeys with dystonia-like movements resulting from overtraining in a gripping task. We investigated whether similar reorganization occurs in the somatic sensory thalamus of patients with dystonia (dys...
BACKGROUND Childhood arterial ischemic stroke (CAIS) is increasingly recognized as an important cause of significant long-term morbidity in the pediatric population. Post stroke movement disorders, above all hemi-dystonias, are much more common in children after stroke compared to adults. However, research in this field is largely lacking. By highlighting some important knowledge gaps, we aim t...
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