BACKGROUND There is solid evidence of the long term efficacy of deep brain stimulation of the globus pallidus pars interna in the treatment of generalised dystonia. However there are conflicting reports concerning whether certain subgroups gain more benefit from treatment than others. We analysed the results of a series of 60 cases to evaluate the effects of previously proposed prognostic facto...

Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Functional neuroimaging studies have yielded abnormal task-related sensorimotor activation in dystonia, but the results appear to be rather variable across studies. Further, study size was usually small including different types of dystonia. Here we performed an ...

Dystonia in the causalgia-dystonia syndrome is characterized by a fixed dystonic posture. To identify involvement of central pathophysiologic mechanisms, we analyzed soleus H-reflex tests in five patients with causalgia-dystonia. Soleus H-reflex test results in these patients differed from those in healthy controls but were similar to those in purely dystonic patients and healthy controls mimic...

Acute dystonic reactions are becoming much less prevalent in clinical practice due to the use of newer antipsychotics. Drug-drug interactions, patient characteristics, and environmental and genetic factors all contribute to the rate of occurrence of acute dystonia with second generation agents. In this case, we report a glossopharyngeal dystonia secondary to a lurasidone-fluoxetine CYP-3A4 inte...

early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for th...

A 30-year-old man with a history of generalized epilepsy presented with progressively worsening involuntary movements for 2 years. He had no family history of movement disorders. He had orofacial choreiform movements with sucking, grimacing, and neck flexion, which were exacerbated with eating. He also had oral ulcers due to involuntary biting. Blood smear showed 20% acanthocytes. Nerve conduct...

Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary dystonia genes were identified that provide new insight into dystonia pathogenesis. The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). Furthermore, this pathway is also dysfuncti...

A woman with progressive, medically intractable right upper limb dystonia underwent a pallidotomy with only transient improvement. During the procedure her dystonia became more severe as she repeatedly made a fist to command in order to provoke dystonia transiently (movement provoked dystonia). Comparisons within cells in the internal segment of the globus pallidus (Gpi) disclosed that the firi...

Deep brain stimulation (DBS) at the internal globus pallidus (GPi) is currently approved for the treatment of primary generalized and segmental dystonia. Younger age at surgery, shorter disease duration, and absence of fixed skeletal deformities correlate with a better response to stimulation. Patients with cervical dystonia may also improve. As a group, patients with secondary dystonias respon...

Introduction Although the subthalamic nucleus (STN) has proven to be a safe and effective target for deep brain stimulation (DBS) in treatment of primary dystonia, rates individual improvement vary considerably. On premise selecting appropriate patients, location contacts dorsolateral sensorimotor area STN may an important factor affecting therapeutic effects, but optimal remains unclear. This ...