Director of Neuromuscular Clinical Trials
New York, NY | United States
Primary Affiliation: Columbia University - New York, NY , United States
PubMed Central Citations
SUNY Upstate Medical University
Eleanor and Lou Gehrig MDA/ALS Research Center
University of Medicine and Dentistry of New Jersey
School of Biological Sciences
Neurological Clinical Research Institute
National Center for Advancing Translational Sciences
Trinity Biomedical Sciences Institute
24PubMed Central Citations
Amyotroph Lateral Scler Frontotemporal Degener 2018 Aug 23;19(5-6):321-330. Epub 2018 Mar 23.
f Eleanor and Lou Gehrig ALS Center, The Neurological Institute, Columbia University , New York , NY , USA.
Amyotroph Lateral Scler Frontotemporal Degener 2018 05 20;19(3-4):294-302. Epub 2017 Dec 20.
a Origent Data Sciences, Inc , Vienna , VA , USA.
Muscle Nerve 2018 May 11;57(5):729-734. Epub 2017 Dec 11.
Cytokinetics, Inc., 280 East Grand Avenue, South San Francisco, California, 94080, USA.
Amyotroph Lateral Scler Frontotemporal Degener 2018 05 6;19(3-4):259-266. Epub 2018 Feb 6.
e Department of Neurology , Barrow Neurological Institute , Phoenix , AZ , USA.
Amyotroph Lateral Scler Frontotemporal Degener 2018 02 11;19(1-2):134-142. Epub 2017 Sep 11.
b Cytokinetics, Inc , South San Francisco , CA , USA , and.
J Clin Neuromuscul Dis 2016 Mar;17(3):99-105
Massachusetts General Hospital, Neurology Clinical Research Institute, Boston, MA.
J Clin Neuromuscul Dis. 2016 Mar;17(3):99-105.
Journal of Clinical Neuromuscular Disease
OBJECTIVE: 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 amyotrophic lateral sclerosis consortium (northeast amyotrophic lateral sclerosis) sites performed chart reviews to identify active clinical pure upper motor neuron disease patients. Patients with hereditary spastic paraplegia or meeting revised El Escorial electrodiagnostic criteria for amyotrophic lateral sclerosis were excluded. Patients were classified into 2 groups according to the presence or absence of minor electromyography (EMG) abnormalities. RESULTS: Two hundred thirty-three 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 2 groups. No difference was seen in clinical symptoms, disability, or outcome measures between the 2 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 northeast amyotrophic lateral sclerosis network and suggests feasibility for conducting clinical trials in this population.
J Clin Neuromuscul Dis. 2014 Dec;16(2):104-5
J Clin Neuromuscul Dis.
Neurology. 2009 Nov 17;73(20):1686-92.
BACKGROUND: Progressive muscular atrophy (PMA) is clinically characterized by signs of lower motor neuron dysfunction and may evolve into amyotrophic lateral sclerosis (ALS). Whether PMA is actually a form of ALS has important consequences clinically and for therapeutic trials. We compared the survival of patients with PMA or ALS to analyze the clinical features that influence survival in PMA. METHODS: We reviewed the medical records of patients with PMA (n = 91) or ALS (n = 871) from our ALS Center and verified survival by telephoning the families or using the National Death Index. RESULTS: In PMA, patients were more likely to be male (p < 0.001), older (p = 0.007), and lived longer (p = 0.01) than in ALS. Cox model analysis suggested that the risk of death increased with age at onset in both patient groups (p < 0.005). Upper motor neuron (UMN) signs developed in 22% of patients with PMA within 61 months after diagnosis. Demographic and other clinical variables did not differ at diagnosis between those who did or did not develop UMN signs. In PMA, the factors present at diagnosis that predicted shorter survival were greater number of body regions affected, lower forced vital capacity, and lower ALS Functional Rating Scale-Revised score. Noninvasive ventilation and gastrostomy were used frequently in PMA. CONCLUSION: Although patients with progressive muscular atrophy (PMA) tended to live longer than those with amyotrophic lateral sclerosis (ALS), shorter survival in PMA is associated with the same risk factors that predict poor survival in ALS. Additionally, PMA is relentlessly progressive, and UMN involvement can occur, as also reported in imaging and postmortem studies. For these reasons, PMA should be considered a form of ALS.