Primary lateral sclerosis and early upper motor neuron disease: Characteristics of a cross-sectional population

• Type of Material: Article
• Authors: Christina Fournier, Emory University; Alyssa Murphy, Massachusetts General Hospital; Lorena Loci, Massachusetts General Hospital; Hiroshi Mitsumoto, Columbia Presbyterian Medical Center; Catherine Lomen-Hoerth, University of California, San Francisco; Yasushi Kisanuki, Ohio State University; Zachary Simmons, Pennsylvania State University; Nicholas J. Maragakis, Johns Hopkins University; April L. McVey, University of Kansas; Tawfiq Al-Lahham, University of Arkansas for Medical Sciences; Terry D. Heiman-Patterson, Drexel University; Jinsy Andrews, University of Connecticut; Erin McDonnell, Massachusetts General Hospital; Merit Cudkowicz, Massachusetts General Hospital; Nazem Atassi, Massachusetts General Hospital
• Language: English
• Date: 2016-01-01
• Publisher: Lippincott, Williams & Wilkins
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2016 Wolters Kluwer Health, Inc. All rights reserved.
• Final Published Version (URL): http://dx.doi.org/10.1097/CND.0000000000000102
• Title of Journal or Parent Work: Journal of Clinical Neuromuscular Disease
• ISSN: 1522-0443
• Volume: 17
• Issue: 3
• Start Page: 99
• End Page: 105
• Grant/Funding Information: We would also like to thank the Spastic Paraplegia Foundation and Northeast ALS Consortium for grant support towards upper motor neuron disease research.
• Keywords: corticospinal motor neurons; amyotrophic lateral sclerosis; upper motor neuron disease; registry; primary lateral sclerosis
• Research Categories: Health Sciences, Medicine and Surgery; Biology, Neuroscience

Abstract

Objectives: The goals of this study were to characterize clinical and electrophysiologic findings of subjects with upper motor neuron disease and to explore feasibility of clinical trials in this population. Methods: Twenty northeast ALS consortium (NEALS) sites performed chart reviews to identify active clinical pure upper motor neuron disease patients. Patients with hereditary spastic paraplegia (HSP) or meeting revised El Escorial electrodiagnostic criteria for ALS were excluded. Patients were classified into two groups according to the presence or absence of minor electromyography (EMG) abnormalities. Results: 233 subjects with upper motor neuron disease were identified; 217 had available EMG data. Normal EMGs were seen in 140 subjects, and 77 had minor denervation. Mean disease duration was 84 (±80) months for the entire cohort with no difference seen between the two groups. No difference was seen in clinical symptoms, disability, or outcome measures between the two groups after correcting for multiple comparisons. Conclusions: Minor EMG abnormalities were not associated with phenotypic differences in a clinical upper motor neuron disease population. These findings suggest that subtle EMG abnormalities can not necessarily be used as a prognostic tool in patients with clinical upper motor neuron disease. This study also demonstrates the availability of a large number of patients with upper motor neuron diseases within the NEALS network and suggests feasibility for conducting clinical trials in this population.