[Clinical Features of Common Types of Dystonia and Practical Approach for Occupational Dystonia].

Dystonia is a movement disorder characterized by sustained muscle contractions that result in abnormal "patterned" movements and/or postural abnormalities. Based on the accompanying symptoms, dystonia can be classified as isolated (i.e.

Obsessive-compulsive symptoms are negatively correlated with motor severity in patients with generalized dystonia.

We aimed to clarify the correlations between motor symptoms and obsessive-compulsive symptoms and between the volumes of basal ganglia components and obsessive-compulsive symptoms. We retrospectively included 14 patients with medically intractable, moderate and severe generalized dystonia. The Burke-Fahn-Marsden Dystonia Rating Scale and Maudsley Obsessional Compulsive Inventory were used to evaluate the severity of dystonia and obsessive-compulsive symptoms, respectively.

Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings.

Here we report two siblings with ataxia and peripheral neuropathy. One patient showed head tremors. Genetic analysis revealed a mutation in the hepatic α-tocopherol transfer protein (α-TTP) gene (TTPA) on chromosome 8q13.

Long-Term Follow-Up of 12 Patients Treated with Bilateral Pallidal Stimulation for Tardive Dystonia.

Tardive dystonia (TD) is a side effect of prolonged dopamine receptor antagonist intake. TD can be a chronic disabling movement disorder despite medical treatment. We previously demonstrated successful outcomes in six patients with TD using deep brain stimulation (DBS); however, more patients are needed to better understand the efficacy of DBS for treating TD.

Basic research and surgical techniques for brain arteriovenous malformations.

Arteriovenous malformations (AVMs) are hemorrhagic vascular diseases in which arteries and veins are directly connected with no capillary bed between the two. We herein introduce the results of basic research of this disease and surgical techniques based on our data and experiences. The results obtained from our research show that cell death- and inflammation-related molecules changed or became activated compared with control specimens.

Can Pallidal Deep Brain Stimulation Rescue Borderline Dystonia? Possible Coexistence of Functional (Psychogenic) and Organic Components.

The diagnosis and treatment of functional movement disorders are challenging for clinicians who manage patients with movement disorders. The borderline between functional and organic dystonia is often ambiguous. Patients with functional dystonia are poor responders to pallidal deep brain stimulation (DBS) and are not good candidates for DBS surgery.

Clinical Outcome and Intraoperative Neurophysiology of the Lance-Adams Syndrome Treated with Bilateral Deep Brain Stimulation of the Globus Pallidus Internus: A Case Report and Review of the Literature.

Background: The Lance-Adams syndrome (LAS) is a myoclonus syndrome caused by hypoxic-ischemic encephalopathy. LAS cases could be refractory to first-line medications, and the neuronal mechanism underlying LAS pathology remains unknown.

Objectives: To describe a patient with LAS who underwent bilateral globus pallidus internus (GPi) stimulation and discuss the pathophysiology of LAS with intraoperative electrophysiological findings.

Cerebral Venous Thrombosis: An Unexpected Complication with Cerebrospinal Fluid Leaks after a Fall in a Patient with Spinocerebellar Ataxia Type 6.

A 65-year-old woman with spinocerebellar ataxia presented with generalized seizures due to subcortical hemorrhaging. Magnetic resonance imaging (MRI) revealed obstruction of the superior sagittal sinus. Despite treatment, she became comatose.

A Juvenile Case of Bow Hunter's Syndrome Caused by Atlantoaxial Dislocation with Vertebral Artery Dissecting Aneurysm.

Background: Bow hunter's syndrome (BHS) is caused by posterior circulation insufficiency that results from the occlusion or compression of the vertebral artery (VA) during neck rotation. Owing to its rarity, there is no guideline to support the decision of selecting a conservative or a surgical approach. Management of BHS is dependent on each patient.

The risk of hemorrhage in stereotactic biopsy for brain tumors.

Objective : One major complication associated with STB is intratumoral hematoma, which is also the most common cause of morbidity related to permanent paralysis and mortality in STB. The risk of perioperative hemorrhage is generally between 1% and 10%, but this could be an underestimation since it is not common for many neurosurgeons to perform CT scans after uncomplicated STBs. In this study, we describe the incidence of cerebral hemorrhage, including asymptomatic cerebral hemorrhage.

Activation of mirror neuron system during gait observation in sub-acute stroke patients and healthy persons.

The observation of walking improves gait ability in chronic stroke survivors. It has also been suggested that activation of the mirror neuron system contributes to this effect. However, activation of the mirror neuron system during gait observation has not yet been assessed in sub-acute stroke patients.

Microdiscectomy and Foraminotomy in Cervical Spondylotic Myelopathy and Radiculopathy.

This study was to assess the efficacy of microdiscectomy, cage fixation, and right tranuncal foramintomy for the patients suffering from right radiulo-myelopathy. Anterior cervical foraminotomy was reported to be an effective option for the treatment of cervical degenerative radiculopathy but with the problem of recurrence. Since Hakuba reported the method of trans-unco-discal approach in 1976, it was designed as keyhole foraminotomy which was called transuncal approach, transpedicular approach or transvertebral approach.

Down-regulation of MDR1 by Ad-DKK3 via Akt/NFκB pathways augments the anti-tumor effect of temozolomide in glioblastoma cells and a murine xenograft model.

Background: Glioblastoma multiforme (GBM) is the most malignant of brain tumors. Acquired drug resistance is a major obstacle for successful treatment. Earlier studies reported that expression of the multiple drug resistance gene (MDR1) is regulated by YB-1 or NFκB via the JNK/c-Jun or Akt pathway.

Posttraumatic Cerebrospinal Fluid Leak Associated with an Upper Cervical Meningeal Diverticulum.

Background: Spontaneous intracranial hypotension (SIH) has been increasingly recognized as a phenomenon caused by cerebrospinal fluid (CSF) leaks; however, its pathogenesis remains unclear.

Case Description: We report 2 cases of SIH resulting from CSF leak from a meningeal diverticulum at the C2 nerve root sleeve. The first case is that of a 46-year-old man who experienced orthostatic headache after a bicycle accident at age 45.

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Background: Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with complex early-onset dystonia. Almost all reported KMT2B mutations occurred de novo in the paternal germline or in the early development of the patient. We describe clinico-genetic features on four Japanese patients with novel de novo mutations and demonstrate the phenotypic spectrum of KMT2B mutations.

Treatment of Unruptured Cerebral Aneurysms with the Mineralocorticoid Receptor Blocker Eplerenone-Pilot Study.

Background: Currently there are no pharmacological therapies for patients with unruptured cerebral aneurysms. Elsewhere we showed that the mineralocorticoid receptor antagonist eplerenone prevented the formation of cerebral aneurysms in our ovariectomized hypertensive aneurysm rat model. The current pilot study evaluated whether it can be used to prevent the growth and rupture of cerebral aneurysms in hypertensive patients.

Intra-arterial high signals on arterial spin labeling perfusion images predict the occluded internal carotid artery segment.

Purpose: Arterial spin labeling (ASL) involves perfusion imaging using the inverted magnetization of arterial water. If the arterial arrival times are longer than the post-labeling delay, labeled spins are visible on ASL images as bright, high intra-arterial signals (IASs); such signals were found within occluded vessels of patients with acute ischemic stroke. The identification of the occluded segment in the internal carotid artery (ICA) is crucial for endovascular treatment.

Blocking COX-2 induces apoptosis and inhibits cell proliferation via the Akt/survivin- and Akt/ID3 pathway in low-grade-glioma.

Approximately half of surgically-treated patients with low-grade-glioma (LGG) suffer recurrence or metastasis. Currently there is no effective drug treatment. While the selective COX-2 inhibitor celecoxib showed anti-neoplastic activity against several malignant tumors, its effects against LGG remain to be elucidated.

Cryptic Recanalization of Chronic Vertebral Artery Occlusion by Head Rotation.

Background: Chronic vertebral artery occlusion (VAO) can be associated with ischemic stroke, as thrombi formed under blood flow stagnation around the stump of the VAO may migrate into the brain. We report a new mechanism of chronic VAO-associated ischemic stroke and a patient with cryptic recanalization of chronic VAO by head rotation.

Case Description: A 74-year-old man presented with chronic right VAO and repeated ischemic embolic stroke in the posterior circulation despite antiplatelet therapy.

Therapeutic Perspective on Tardive Syndrome with Special Reference to Deep Brain Stimulation.

Tardive syndrome (TDS) is a potentially permanent and irreversible hyperkinetic movement disorder caused by exposure to dopamine receptor blocking agents. Guidelines published by the American Academy of Neurology recommend pharmacological first-line treatment for TDS with clonazepam (level B), ginkgo biloba (level B), amantadine (level C), and tetrabenazine (level C). Recently, a class II study provided level C evidence for use of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with TDS.

Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia.

Background: A missense mutation of the THAP1 gene results in DYT6 primary dystonia. While deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in treating primary dystonia, recent reports indicate that GPi DBS is only mildly effective for DYT6 dystonia.

Objective: To describe a patient with DYT6 dystonia who underwent thalamic ventral lateral anterior (VLa) nucleus DBS.