Magnetoencephalography for Epilepsy Presurgical Evaluation.

Purpose Of The Review: Magnetoencephalography (MEG) is a functional neuroimaging technique that records neurophysiology data with millisecond temporal resolution and localizes it with subcentimeter accuracy. Its capability to provide high resolution in both of these domains makes it a powerful tool both in basic neuroscience as well as clinical applications. In neurology, it has proven useful in its ability to record and localize epileptiform activity.

Synaptic processes and immune-related pathways implicated in Tourette syndrome.

Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions.

Impact of Apolipoprotein E gene polymorphism during normal and pathological conditions of the brain across the lifespan.

The central nervous system (CNS) is the cellular substrate for the integration of complex, dynamic, constant, and simultaneous interactions among endogenous and exogenous stimuli across the entire human lifespan. Numerous studies on aging-related brain diseases show that some genes identified as risk factors for some of the most common neurodegenerative diseases - such as the allele 4 of gene () for Alzheimer's disease (AD) - have a much earlier neuro-anatomical and neuro-physiological impact. The impact of polymorphism appears in fact to start as early as youth and early-adult life.

Hypertrophy of nigral neurons in Torsin1A deletion (DYT1) carriers manifesting dystonia.

Objective: To individuate morphometric changes and prevalent types of intraneuronal inclusions in nigral neurons of DYT1 dystonia autopsy-brains.

Methods: Using precise methods of quantification, such as unbiased stereology, we measured cellular and subcellular volumes of neuromelanin-containing (pigmented) neurons in the substantia nigra (SN) of DYT1 carriers with and without manifestation of generalized dystonia (manif-DYT1 and non-manif-DYT1, respectively), non-DYT1 carriers manifesting generalized dystonia (manif-non-DYT1) patients, and age-matched control subjects (controls). A total of four DYT1 carriers (two manif-DYT1 and two non-manif-DYT1), six manif-non-DYT1 carriers, and six controls autopsy-brains were available for these neuropathological-morphometric analyses.

Brain Tumor-Related Epilepsy: a Current Review of the Etiologic Basis and Diagnostic and Treatment Approaches.

Purpose Of Review: The relationship of brain tumors and seizures remains poorly understood. This article is an overview of the epidemiology, etiology, and diagnostic and treatment approaches of tumor-related epilepsy primarily with regard to glial-based tumors, the most commonly considered brain tumor in this field.

Recent Findings: Over the past many years, several novel etiologic mechanisms to explain how tumors induce seizures have been developed, which this article reviews, including the roles of glutamate-induced excitotoxicity, matrix metalloproteinases, isocitrate dehydrogenase, methylguanine methyltransferase, and functional network connectivity.

Randomized, Double-Blind, Placebo-Controlled Trial Demonstrates the Efficacy and Safety of Oral Aripiprazole for the Treatment of Tourette's Disorder in Children and Adolescents.

Objectives: Aripiprazole modulates dopaminergic and serotonergic pathways that may play a role in the pathogenesis of Tourette's disorder (TD). This trial evaluated the efficacy and safety of oral aripiprazole in the suppression of tics in children and adolescents with TD.

Methods: This phase 3, randomized, double-blind, placebo-controlled trial ( ClinicalTrials.

Design of a Multisite Study Assessing the Impact of Tic Disorders on Individuals, Families, and Communities.

Background: Tic disorders, including Tourette syndrome, are complex, multisymptom diseases, yet the impact of these disorders on affected children, families, and communities is not well understood.

Methods: To improve the understanding of the impacts of Tourette syndrome, two research groups conducted independent cross-sectional studies using qualitative and quantitative measures. They focused on similar themes, but distinct scientific objectives, and the sites collaborated to align methods of independent research proposals with the aim of increasing the analyzable sample size.

Postural, Bone, and Joint Disorders in Parkinson's Disease.

Background: Stooped posture was mentioned in the original description of the characteristic features of Parkinson's disease (PD). Since then, a variety of postural, bone, and joint problems have become recognized as common aspects of the illness and deserve attention.

Methods: A Medline literature search for the period from 1970 to 2016 was performed to identify articles relevant to this topic.

Early Clinical Predictors of Treatment-Resistant and Functional Outcomes in Parkinson's Disease.

Background: The aim of this work was to identify early clinical predictors of important outcomes in Parkinson's disease (PD). In PD, treatment-resistant (e.g.

Practice guideline: Idiopathic normal pressure hydrocephalus: Response to shunting and predictors of response: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Objective: We evaluated evidence for utility of shunting in idiopathic normal pressure hydrocephalus (iNPH) and for predictors of shunting effectiveness.

Methods: We identified and classified relevant published studies according to 2004 and 2011 American Academy of Neurology methodology.

Results: Of 21 articles, we identified 3 Class I articles.

Parkinson disease and incidental Lewy body disease: Just a question of time?

Objective: To quantify the loss of pigmented neurons in the substantia nigra (SN) of autopsy-confirmed Parkinson disease (PD) and incidental Lewy body disease (ILBD) vs age-matched controls (C).

Methods: Unbiased stereology methods were used to rigorously count number and measure volumes of nigral pigmented neurons in PD, ILBD, and C brains. The obtained stereologic results were correlated with Lewy body (LB), amyloid plaque (AP), neurofibrillary tangle (NFT), and vascular pathology loads assessed in nigral and extranigral regions of each PD, ILBD, and C brain.

Tremor and Klinefelter's Syndrome.

Background: Klinefelter's syndrome (KS) has been associated with tremor, but reports on tremor phenomenology and treatment are limited.

Case Reports: Patient 1 is a 17-year-old male with a dystonic tremor treated with deep brain stimulation (DBS). Patient 2 is a 57-year-old male with a predominant left hand resting tremor and dystonic features.

Complementary Therapies for Parkinson's Disease: What's Promoted, Rationale, Potential Risks and Benefits.

Background: Nearly half of all patients with Parkinson's disease (PD) utilize some form of complementary therapy often identified on the Internet and frequently not reported to their physicians. Treating physicians are sometimes unaware of such treatments, including their rationale, mechanisms, potential efficacy, and potential adverse effects.

Methods: Methods for this study included systematic Internet search of products recommended for PD, medical literature review to determine scientific rationale, any evidence of efficacy, and potential risks.

Withdrawal-Emergent Dyskinesias following Varenicline Therapy.

Varenicline (Chantix[R]) is a nicotinic acetylcholine receptor partial agonist used to aid smoking cessation. Adverse psychiatric and behavioral effects of the drug are recognized and national drug monitoring has included reports of tardive dyskinesia, but no cases have been described in the literature. We now report the first two cases of varenicline-related withdrawal emergent dyskinesias.

Augmentation in Restless Legs Syndrome: Treatment with Gradual Medication Modification.

Dopaminergic drugs can cause augmentation during the treatment of restless legs syndrome (RLS). We previously reported that sudden withdrawal of dopaminergic treatment was poorly tolerated. We now report our experience with gradual withdrawal of the dopaminergic drug during the drug substitution process using a retrospective chart review with comparison to previous data.

APOε2 and education in cognitively normal older subjects with high levels of AD pathology at autopsy: findings from the Nun Study.

Asymptomatic Alzheimer's disease (ASYMAD) subjects are individuals characterized by preserved cognition before death despite substantial AD pathology at autopsy. ASYMAD subjects show comparable levels of AD pathology, i.e.

Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses.

Background: Dystonias (Dys) represent the third most common movement disorder after essential tremor (ET) and Parkinson's disease (PD). While some pathogenetic mechanisms and genetic causes of Dys have been identified, little is known about their neuropathologic features. Previous neuropathologic studies have reported generically defined neuronal loss in various cerebral regions of Dys brains, mostly in the basal ganglia (BG), and specifically in the substantia nigra (SN).

Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome.

Importance: Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants (<200), and none has examined the ages of highest risk for each TS-associated comorbidity or their etiologic relationship to TS.

Objective: To characterize the lifetime prevalence, clinical associations, ages of highest risk, and etiology of psychiatric comorbidity among individuals with TS.

Tics and shorter stature: should we be looking for an association?

Background: Tic disorders have commonly occurring and well recognized comorbidities including obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD). Shorter stature is not generally appreciated as an associated feature.

Methods: Case reports and a literature review.

Temporal course of the tourette syndrome clinical triad.

Background: Tourette syndrome (TS) is a disorder characterized by childhood onset of motor and phonic tics, often with improvement of tic symptoms by young adult years. The temporal course of tics and commonly comorbid behavioral symptoms is still not well characterized.

Methods: In order to clarify the time course of tics and comorbid attention deficit hyperactivity disorder (ADHD) or obsessive compulsive disorder (OCD) in TS, we administered a brief survey regarding the course of symptoms at a single point in time to 53 TS patients aged 13-31 years.

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

Objective: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date.

Method: The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls.

A randomized clinical trial of high-dosage coenzyme Q10 in early Parkinson disease: no evidence of benefit.

Importance: Coenzyme Q10 (CoQ10), an antioxidant that supports mitochondrial function, has been shown in preclinical Parkinson disease (PD) models to reduce the loss of dopamine neurons, and was safe and well tolerated in early-phase human studies. A previous phase II study suggested possible clinical benefit.

Objective: To examine whether CoQ10 could slow disease progression in early PD.