Panel Contributors
All samples and data were collected with informed consent under local IRB-approved protocols. These samples are generously shared by Drs. Petra Kaufmann, Catherine Lomen-Hoerth, Edward Kasarskis, Robert Brown, Eric Sorenson, Robert Miller, Zachary Simmons, Merit Cudkowidz, Paul Gordon, Daniel Newman, Richard Barohn, Rup Tandan, John Hardy, Kimberly Goslin, George Sachs, Ericka Simpson, Allita Dibernardo, David Lacomis, Richard Bedlack, Jim Caress, Jeffrey Rosenfeld, Carlayne Jackson, Stephen Scelsa, Jeremy Shefner, Ashok Verma, David Chad, Daragh Heitzman, Nickolas Maragakis, Stacy Rudniki, Tasheen Mozaffar, Paul Barkhaus, Peter Bosch, Kevin Boylan, and Laurie Gutmann. Panel Composition and Demographics
This panel contains 5 µg DNA from 92 unique and unrelated White individuals with sporadic amyotrophic lateral sclerosis (ALS). These include 52 males and 40 females from North America. The age of ALS onset ranges from 21 years to 80 years. This was defined as when symptom(s) of ALS were first noted (including at least one: lower motor neuron signs (LMN) including weakness, atrophy, fasciculations; upper motor neuron (UMN) signs including spasticity, pathologic spread of reflexes, clonus, etc). Survival for all subjects on NDPT025 is equal to or greater than 7 years from onset of ALS.
Panel Design
The concentration of each DNA sample to be plated is normalized and then this concentration is verified. Two samples are repeated to assess data reproducibility, and sample placement has been optimized to reduce possible errors in sample identity during the genotyping process. Two wells remain empty for investigator control samples.
The phenotypic details of any single subject can be viewed through the list of panel members by clicking on the individual ID number. For subject inclusion, complete NINDS Repository Clinical Data Elements (CDEs) were required. Furthermore, only subjects who (a) had no family history of ALS (i.e. sporadic ALS) and (b) met the El Escorial criteria for definite (n=30 subjects), probable (n=22 subjects), or possible (n=40 subjects) (Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1994;124 Suppl:96-107 & Miller RG, Munsat TL, Swash M, Brooks BR, for the World Federation of Neurology Committee on Research. Consensus guidelines for the design and implementation of clinical trials in ALS. J Neurol Sci.1999;169:2-12). None of the subjects had exclusionary features. All subjects had progressive spread of signs characteristic of ALS, together with the absence of (1) electrophysiological evidence of other disease processes that might explain the signs of LMN and/or UMN degeneration, and (2) neuro-imaging evidence of other disease processes that might explain the observed clinical and electrophysiological signs. All samples and data were collected with informed consent under local IRB approved protocols.
Family History
All subjects were queried regarding family history of ALS, parkinsonism, dementia, Alzheimer's disease, and other neurological dysfunction. Only subjects without a reported family history of ALS were included on this panel.