Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.

Dravet syndrome (DS) is a rare and severe epileptic syndrome of childhood with prevalence between 1/22,000 and 1/49,900 of live births. Approximately 80% of patients with this syndrome present SCN1A pathogenic variants, which encodes an alpha subunit of a neural voltage-dependent sodium channel. There is a correlation between PCDH19 pathogenic variants, encodes the protocadherin 19, and a similar disease to DS known as DS-like phenotype.

Neuromodulation for Medically Refractory Neuropathic Pain: Spinal Cord Stimulation, Deep Brain Stimulation, Motor Cortex Stimulation, and Posterior Insula Stimulation.

Background: The treatment of neuropathic pain (NP) continues to be controversial as well as an economic health issue and a challenge to health care. Neurosurgery can offer different methods of neuromodulation that may improve patients' condition, including deep brain stimulation (DBS), motor cortex stimulation (MCS), spinal cord stimulation (SCS), and posterior insula stimulation (PIS). There is no consensus of opinion as to the final effects of these procedures, which stimulation parameters to select, the correct timing, or how to select the patients who will best benefit from these procedures.

Long-term efficacy and safety of alemtuzumab in patients with RRMS: 12-year follow-up of CAMMS223.

Background: In the phase 2 CAMMS223 trial (NCT00050778), alemtuzumab significantly improved clinical and MRI outcomes versus subcutaneous interferon beta-1a over 3 years in treatment-naive patients with relapsing-remitting MS. Here, we assess efficacy and safety of alemtuzumab over 12 years in CAMMS223 patients who enrolled in the CAMMS03409 extension (NCT00930553), with available follow-up through the subsequent TOPAZ extension (NCT02255656).

Methods: In CAMMS223, patients received 2 alemtuzumab courses (12 mg/day; baseline: 5 days; 12 months later: 3 days); 22% received a third course.

Pregnancy outcomes and postpartum relapse rates in women with RRMS treated with alemtuzumab in the phase 2 and 3 clinical development program over 16 years.

Background: Relapsing-remitting multiple sclerosis (RRMS) is frequently diagnosed in women of reproductive age. Because the use of disease-modifying therapies (DMTs) early in the disease course is increasing, it is important to evaluate the safety of DMTs in pregnant women and their developing fetuses. Alemtuzumab, approved for the treatment of relapsing forms of MS, is administered as 2 courses of 12 mg/day on 5 consecutive days at baseline and on 3 consecutive days 12 months later.

Spinal Cord Stimulation in Pregnant Patients: Current Perspectives of Indications, Complications, and Results in Pain Control: A Systematic Review.

Spinal cord stimulation (SCS) has been described as a valuable neuromodulator procedure in the management of chronic medically untreated neuropathic pain. Although the use of this technique has been published in many papers, a question still remains regarding its applicability in pregnant patients. The goal of this paper is to discuss the risks, complications, and results as well as the prognosis of SCS in pregnant patients.

Brazilian Consensus for the Treatment of Multiple Sclerosis: Brazilian Academy of Neurology and Brazilian Committee on Treatment and Research in Multiple Sclerosis.

The expanding therapeutic arsenal in multiple sclerosis (MS) has allowed for more effective and personalized treatment, but the choice and management of disease-modifying therapies (DMTs) is becoming increasingly complex. In this context, experts from the Brazilian Committee on Treatment and Research in Multiple Sclerosis and the Neuroimmunology Scientific Department of the Brazilian Academy of Neurology have convened to establish this Brazilian Consensus for the Treatment of MS, based on their understanding that neurologists should be able to prescribe MS DMTs according to what is better for each patient, based on up-to-date evidence and practice. We herein propose practical recommendations for the treatment of MS, with the main focus on the choice and management of DMTs, as well as present a review of the scientific rationale supporting therapeutic strategies in MS.

A disturbed processing of graviceptive pathways may be involved in the pathophysiology of balance disorders in patients with multiple sclerosis.

The purpose of this study was to determine the relationship between perception of verticality and balance disorders in multiple sclerosis patients. We evaluated patients and healthy controls. Patients were divided into two groups according to their risk of fall, with or without risk of fall, measured by a Dynamic Gait Index scale.

Alternatives for reducing relapse rate when switching from natalizumab to fingolimod in multiple sclerosis.

Natalizumab is a therapeutic option for treating multiple sclerosis (MS) and is particularly efficacious for patients with highly active disease. A long washout period has been recommended between withdrawal of natalizumab and start of fingolimod (another option for treating MS). This long washout period has been associated with a significant increase in MS activity.

Puerperal Extracranial Vertebral Artery Dissection and Nonaneurysmal Subarachnoid Hemorrhage.

Previously reported only a few times before, we present a case of extracranial vertebral dissection and spontaneous frontoparietal subarachnoid hemorrhage (SAH) in the puerperium, discussing possible mechanisms and difficulties in management. A 35-year-old woman presented 10 days postcaesarean section with neck pain and vertigo with normal initial investigations. Following recurrent vertigo, headache, and ataxia, imaging revealed a frontoparietal SAH and vertebral artery dissection.

Natalizumab treatment in multiple sclerosis: the experience from two Brazilian MS centers.

Objective Analyze the demographics, clinical characteristics, efficacy and safety of natalizumab treatment in Brazilian patients with multiple sclerosis (MS) followed up for at least 12 months, in two tertiary MS care centers in São Paulo.Method We evaluated the effect of natalizumab treatment on annualized relapse rate and disability progression in 75 patients with MS treated with natalizumab for at least 12 months. A subgroup analysis was performed to evaluate efficacy of natalizumab treatment in patients with Expanded Disability Status Scale (EDSS) ≤ 3.

Cerebrospinal fluid aquaporin-4 antibody levels in neuromyelitis optica attacks.

To elucidate immunopathogenetic roles of aquaporin-4 antibodies in the cerebrospinal fluid (CSF) of neuromyelitis optica spectrum disorders (NMOSD), we analyzed aquaporin-4 antibody titers, cellular and inflammatory markers in the CSF collected from 11 aquaporin-4 antibody seropositive patients. The CSF aquaporin-4 antibody levels during attacks (but not in sera) closely correlated with pleocytosis, inflammatory cytokines including interleukin-6 that can regulate antibody-producing plasmablasts, and glial fibrillary acidic protein levels in the CSF. The amount of aquaporin-4 antibodies present in the central nervous system may have therapeutic implications, as it is associated with astrocyte injury and inflammatory responses during NMOSD attacks.

Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders.

Objective: To evaluate clinical features among patients with neuromyelitis optica spectrum disorders (NMOSD) who have myelin oligodendrocyte glycoprotein (MOG) antibodies, aquaporin-4 (AQP4) antibodies, or seronegativity for both antibodies.

Methods: Sera from patients diagnosed with NMOSD in 1 of 3 centers (2 sites in Brazil and 1 site in Japan) were tested for MOG and AQP4 antibodies using cell-based assays with live transfected cells.

Results: Among the 215 patients with NMOSD, 7.

Removal of clots in subarachnoid space could reduce the vasospasm after subarachnoid hemorrhage.

Background: Cerebral vasospasm after subarachnoid hemorrhage (SAH) is a major cause of morbidity and mortality. We studied the effects of clot removal on multiple outcome variables following the clipping of ruptured anterior communicating aneurysms.

Methods: From 2007 to 2011, 30 patients with Fisher grade III aneurysmal SAH underwent clipping of an anterior communicating artery aneurysm before SAH day 3.

Transcranial Doppler as a routine in the treatment of vasospasm following subarachanoid hemorrhage (SAH).

Background: Vasospasm is an important complication observed after subarachnoid hemorrhage (SAH) and is a frequent cause of mortality and morbidity. We present our routine management of vasospasm after SAH and emphasize the importance of transcranial Doppler (TCD) ultrasonography in this management.

Method: Historical records and images were sampled from June 2005 to September 2011 for 110 patients with SAH due to ruptured aneurysm in the anterior circulation.

Olfactory groove meningiomas: approaches and complications.

Olfactory groove meningiomas (OGM) account for 4.5% of all intracranial meningiomas. We report 21 patients with OGMs.

p53 Protein expression in meningiomas - a clinicopathologic study of 55 patients.

Formalin-fixed, paraffin-embedded surgical specimens from 55 meningiomas were immunostained with monoclonal antibody against p53 (Immunotech, Marseilles, France). There were 38 women and 17 men ranging between 9 and 82 years of age. The patients were divided into two groups: group I (47 patients) - mildly symptomatic and group II (eight patients) - severe initial symptoms.

Chiari type I presenting as left glossopharyngeal neuralgia with cardiac syncope.

Glossopharyngeal neuralgia is an uncommon craniofacial pain syndrome that is occasionally associated with cardiac syncope. However, we relate Chiari I syndrome as a cause of this clinical picture for the first time in the literature. The authors analyze the relevant literature and discuss the pathogenesis and treatment of associated syndromes.