Service Lines, Neurology, and Academic Medicine: Departmental Perspectives, Implementation Strategies, and Keys to Success.

Service lines are increasingly common for organizing multidisciplinary patient care. Concerns regarding impacts of neuroscience service lines were voiced at several national neurology department chair summits, prompting the American Academy of Neurology to convene a Service Lines Workgroup. Neurology department leaders nationally at institutions that had created or considered a neuroscience service line were interviewed to elicit their experiences and lessons learned.

Longitudinal gait and balance decline in Friedreich's Ataxia: A pilot study.

Introduction: Friedreich's Ataxia (FA) is a devastating, progressive, neurodegenerative disease. Objective measures that detect changes in neurological function in FA patients are needed to facilitate therapeutic clinical trials. The purpose of this pilot study was to analyze longitudinal changes in gait and balance in subjects with FA using the GAITRite Walkway System and Biodex Balance System™, respectively, and to test the ability of these measures to detect change over time compared to the Friedreich's Ataxia Rating Scale (FARS).

Muscle-Specific Receptor Tyrosine Kinase (MuSK) Myasthenia Gravis.

Autoimmune myasthenia gravis (MG) is the prototypic, antibody-mediated neuromuscular disease and is characterized by a decrease in the number of functional acetylcholine receptors (AChR) within the muscle end plate zone of the neuromuscular junction (NMJ). Although the pathophysiology of AChR-mediated myasthenia gravis has been extensively studied over the last 40 years since its original description by Patrick and Lindstrom (Science 180:871-872, 1973), less is known about the much more recently described muscle-specific kinase (MuSK) antibody-mediated MG. MuSK-MG has features clinically distinct from Ach-R MG, as well as a different pattern of response to treatment and a unique immunopathogenesis.

Humoral factors in ALS patients during disease progression.

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and lower motor neurons in the CNS and leading to paralysis and death. There are currently no effective treatments for ALS due to the complexity and heterogeneity of factors involved in motor neuron degeneration. A complex of interrelated effectors have been identified in ALS, yet systemic factors indicating and/or reflecting pathological disease developments are uncertain.

Motor unit number estimation: a technology and literature review.

Introduction: Numerous methods for motor unit number estimation (MUNE) have been developed. The objective of this article is to summarize and compare the major methods and the available data regarding their reproducibility, validity, application, refinement, and utility.

Methods: Using specified search criteria, a systematic review of the literature was performed.

Ischemic stroke after use of the synthetic marijuana "spice".

Objectives: To report and associate acute cerebral infarctions in 2 young, previously healthy siblings with use of the street drug known as "spice" (a synthetic marijuana product, also known as "K2"), which they independently smoked before experiencing acute embolic-appearing ischemic strokes.

Methods: We present history, physical examination, laboratory data, cerebrovascular imaging, echocardiogram, ECG, and hospital course of these patients.

Results: We found that in both siblings spice was obtained from the same source.

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Introduction: The purpose of this study was to measure and analyze motor unit number estimation (MUNE) values longitudinally in spinal muscular atrophy (SMA).

Methods: Sixty-two children with SMA types 2 and 3 were observed prospectively for up to 42 months. Longitudinal electrophysiological data were collected, including compound motor action potential (CMAP), single motor unit action potential (SMUP), and MUNE.

Prospective cohort study of spinal muscular atrophy types 2 and 3.

Objective: To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning.

Methods: We conducted a prospective observational cohort study of 79 children and young adults with SMA 2/3 who participated in evaluations for up to 48 months. Clinically, we evaluated motor and pulmonary function, quality of life, and muscle strength.

Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix).

Two patients with atypical Friedreich ataxia (heterozygotes for a GAA expansion and a G130V point mutation) experienced modest proprioceptive improvements in their extremities within a month of taking varenicline (Chantix), a drug approved for smoking cessation.

Vascular endothelial growth factor gene transfer for diabetic polyneuropathy: a randomized, double-blinded trial.

Objective: Randomized, blinded trial of intramuscular gene transfer using plasmid vascular endothelial growth factor (VEGF) to treat diabetic polyneuropathy.

Methods: Diabetic patients with polyneuropathy were randomized to receive a VEGF-to-placebo ratio of 3:1. Three sets of injections were given at eight standardized sites adjacent to the sciatic, peroneal, and tibial nerves of one leg.