Improving Electroencephalography Screening via an Online Module for Neurology Trainees: A Multicenter Study.

Purpose: To investigate the utility of a 15-minute online module to improve the self-confidence and knowledge of neurology trainees when screening an EEG.

Methods: We developed a fast, convenient, and accessible 15-minute online module to teach basic concepts of EEG screening using a five-step approach. To assess the efficacy of the module among neurology trainees, three surveys were developed.

G2019S variant is associated with transcriptional changes in Parkinson's disease human myeloid cells under proinflammatory environment.

The G2019S mutation in the leucine-rich repeat kinase 2 (LRRK2) gene is a major risk factor for the development of Parkinson's disease (PD). LRRK2, although ubiquitously expressed, is highly abundant in cells of the innate immune system. Given the importance of central and peripheral immune cells in the development of PD, we sought to investigate the consequences of the G2019S mutation on microglial and monocyte transcriptome and function.

Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease.

There is a paucity of genetic characterization in people with Parkinson's disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-Jewish European PD cases revealed that Puerto Rican participants were more likely to harbor the LRRK2-p.G2019S variant (15.

Differences in Sex-Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism.

Background: Although men and women with the LRRK2 G2019S variant appear to be equally likely to have Parkinson's disease (PD), the sex-distribution among glucocerebrosidase (GBA) variant carriers with PD, including limited to specific variant severities of GBA, is not well understood. Further, the sex-specific genetic contribution to PD without a known genetic variant is controversial.

Objectives: To better understand sex differences in genetic contribution to PD, especially sex-specific frequencies among GBA variant carriers with PD (GBA PD) and LRRK2-G2019S variant carriers with PD (LRRK2 PD).

Association of Olfactory Performance With Motor Decline and Age at Onset in People With Parkinson Disease and the G2019S Variant.

Background And Objectives: There is clinical and phenotypic heterogeneity in G2019S Parkinson disease (PD), including loss of smell. Olfactory scores have defined subgroups of PD at baseline. We now extend this work longitudinally to better determine features associated with olfactory classes and to gain further insight into this heterogeneity.

Dysregulation of mitochondrial and proteolysosomal genes in Parkinson's disease myeloid cells.

An increasing number of identified Parkinson's disease (PD) risk loci contain genes highly expressed in innate immune cells, yet their role in pathology is not understood. We hypothesize that PD susceptibility genes modulate disease risk by influencing gene expression within immune cells. To address this, we have generated transcriptomic profiles of monocytes from 230 individuals with sporadic PD and healthy subjects.

Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers.

Objective: This study was undertaken to compare the rate of change in cognition between glucocerebrosidase (GBA) mutation carriers and noncarriers with and without subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson disease.

Methods: Clinical and genetic data from 12 datasets were examined. Global cognition was assessed using the Mattis Dementia Rating Scale (MDRS).

Anti-TIF-1α/γ Antibody-Positive Dermatomyositis Associated With Metastatic Prostatic Adenocarcinoma.

Dermatomyositis (DM) is an autoimmune myopathy characterized by proximal muscle weakness and distinct skin findings. DM is associated with an increased risk of malignancy in adults. We describe a case of dermatomyositis with unusually severe oropharyngeal dysphagia and respiratory muscle weakness on presentation, who was found to have underlying metastatic prostate cancer.

Cognitive Functioning of Glucocerebrosidase () Non-manifesting Carriers.

Mutations and variants in the glucocerebrosidase () gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden of carrying a single mutation among those without diagnosed PD. Motor, cognitive, psychiatric, and olfactory functioning were assessed in 30 heterozygous mutation carriers without PD (the majority of whom had mild mutations) and 49 non-carriers without PD.

Essential tremor: diagnosis and management.

Essential tremor is one of the most common movement disorders in adults and can affect both children and adults. An updated consensus statement in 2018 redefined essential tremor as an isolated action tremor present in bilateral upper extremities for at least three years. Tremor may also be present in other locations, commonly the neck or the vocal cords.

Education in Neurology Resident Documentation Using Payroll Simulation.

Background: Approaches for teaching neurology documentation include didactic lectures, workshops, and face-to-face meetings. Few studies have assessed their effectiveness.

Objective: To improve the quality of neurology resident documentation through payroll simulation.

Neuropsychiatric characteristics of GBA-associated Parkinson disease.

Mutations in GBA1 are a well-established risk factor for Parkinson disease (PD). GBA-associated PD (GBA-PD) may have a higher burden of nonmotor symptoms than idiopathic PD (IPD). We sought to characterize the relationship between GBA-PD and neuropsychiatric symptoms.

Diagnosis and Management of Dystonia.

Purpose Of Review: This article highlights the clinical and diagnostic tools used to assess and classify dystonia and provides an overview of the treatment approach.

Recent Findings: In the past 4 years, the definition and classification of dystonia have been revised, and new genes have been identified in patients with isolated hereditary dystonia (DYT23, DYT24, and DYT25). Expanded phenotypes were reported in patients with combined dystonia, such as those with mutations in ATP1A3.

Case Studies in Tremor.

Tremor is a frequent patient complaint in the neurologist's office. Nevertheless, despite the routine nature of this office presentation, misdiagnosis of common tremors is not an infrequent practice. In addition, there are less common causes of tremor that can be missed if the clinician is not aware of key features.

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.

Mutations in the glucocerebrosidase (GBA1) gene, the most common genetic contributor to Parkinson's disease (PD), are associated with an increased risk of PD in heterozygous and homozygous carriers. While glucocerebrosidase enzyme (GCase) activity is consistently low in Gaucher disease, there is a range of leukocyte GCase activity in healthy heterozygous GBA1 mutation carriers. To determine whether GCase activity may be a marker for PD with heterozygous GBA1 mutations (GBA1 mutation PD, GBA PD), GBA PD patients (n=15) were compared to PD patients without heterozygous GBA1 mutations (idiopathic PD; n=8), heterozygous GBA1 carriers without PD (asymptomatic carriers; n=4), and biallelic mutation carriers with PD (Gaucher disease with PD, GD1 PD; n=3) in a pilot study.

Clozapine Treatment for Impulse Control Disorders in Parkinson's Disease Patients: A Case Series.

Impulse control disorders (ICDs) are nonmotor complications of dopaminergic medications characterized by problems in behavioral self-control. Common management involves discontinuing or lowering dopaminergic medication, often producing motor worsening. We performed a retrospective chart review of Parkinson's disease (PD) patients treated with clozapine for ICDs.

Treatment Options in Degenerative Cerebellar Ataxia: A Systematic Review.

The etiology of cerebellar ataxia (CA) is heterogeneous and includes easily identified and often reversible causes (i.e., drug toxicity and vitamin B12 deficiency) as well as irreversible degenerative conditions.

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

The phenotype of Parkinson's disease (PD) in patients with and without leucine-rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking. The objective of this study was to characterize the clinical phenotype of Ashkenazi Jewish (AJ) PD carriers of the LRRK2 G2019S mutation. We studied 553 AJ PD patients, including 65 patients who were previously reported, from three sites (two in New York and one in Tel-Aviv).

Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers.

Background: Spatial discrimination thresholds (SDTs) assess somatosensory integration, and provide a window into better understanding the pathophysiology of dystonia. They are abnormal in some focal dystonias, but normal in DYT1 dystonia. It is unknown whether SDTs are altered in DYT6 gene mutation carriers (C).

Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease.

The behavioral and cognitive features of the leucine-rich repeat kinase G2019S mutation in Parkinson's disease in the Ashkenazi Jewish population are not well described; therefore, we sought to more systematically characterize these features using a semistructured psychiatric interview and neuropsychological testing. Twenty-one Ashkenazi Jewish patients having the leucine-rich repeat kinase G2019S mutation were compared with age- and sex-matched Ashkenazi Jewish patients with Parkinson's disease without mutations. Although overall rates of affective disorders were not greater in mutation carriers, the carriers exhibited a 6-fold increased risk of premorbid affective disorders (odds ratio, 6.

LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease.

Leucine rich repeat kinase (LRRK2) G2019S mutations are presumed to cause PD through a toxic gain of function of the protein kinase. Small molecule kinase inhibitors have been developed for the treatment of certain cancers, and some antioncogenic agents such as sunitinib, may nonspecifically inhibit LRRK2. Few studies, however, have assessed cancer risk in LRRK2 mutation carriers.

What's new in dystonia?

Several advances have been made in dystonia in both the basic science and clinical realms. Recent research has implicated dysfunctional circuitry outside of the basal ganglia, thereby broadening our understanding of the pathophysiology of dystonia. Genetic achievements include the discovery of a genetic modifier that protects against clinical expression in DYT1 and the identification of the DYT6 gene (THAP1).