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 ...

BACKGROUND Functional imaging and electrophysiological data from patients with primary dystonia reveal widespread abnormalities in brain areas associated with higher motor functions but to date there has been little investigation of the functional consequences of these abnormalities. The aim of this study was to use a battery of tests of praxis, based on those tests used in routine clinical exa...

UNLABELLED Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. OBJECTIVE To associate clinical information of patients with dystonia with the TOR1-A gene mutations. METHOD Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic ...

Primary cervical dystonia is characterized by abnormal, involuntary, and sustained contractions of cervical muscles. Current ways of treatment focus on alleviating symptomatic muscle activity. Besides pharmacological treatment, in severe cases patients may receive neuromodulative intervention such as deep brain stimulation. However, these (highly invasive) methods have some major drawbacks. For...

Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only pat...

Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated ...

We examined the effects of a sensory trick (SeT) on cortical EEG and globus pallidus (GP) local field potentials in four cervical dystonia patients, two of whom had an effective SeT and two who did not. The application of an effective SeT was associated with bilateral desynchronization in the 6-8 Hz and beta bands in the GP and sensorimotor cortical regions. In contrast, mimicking an SeT led to...

OBJECTIVES Previous studies of surgical treatment for cervical dystonia have reported highly variable rates of postoperative symptomatic benefit and morbidity. Little is known about functional improvement and long term results. This study evaluates the symptomatic and functional outcome of surgical treatment of cervical dystonia in a consecutive series of 46 patients. METHODS The most affecte...