PRIMARY LATERAL SCLEROSIS: WHITE, NON-HISPANIC
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Catalog ID: NDPT086
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Panel Contributors
All samples and data were collected with informed consent under local IRB-approved protocols. These samples were generously shared by Drs. Edward Kasarskis, Petra Kaufmann, Robert Miller, Catherine Lomen-Hoerth, Richard Barohn, Paul Gordon, Robert Brown Jr., Rup Tandan, Zachary Simmons, Mary Kay Floeter, Eric Sorenson, Merit Cudkowidz, Jim Caress, Alan Pestronk, Jaya Trivedi, Alittia Dibernardo, Jonathon Glass, Tulio Bertorini, Richard Bedlack, Stephen Scelsa, John Kelly, Terry Heiman-Patterson, Stacy Rudniki, David Chad, Thomas Vidic, Daniel Newman, Peter Bosch, Kevin Boylan, and James Wymer. Panel Composition and Demographics
Primary lateral sclerosis (PLS) is a rare neuromuscular motor neuron disease characterized by progressive muscle weakness in the voluntary muscles. This panel contains 5 µg DNA from 91 unique and unrelated White individuals diagnosed with sporadic primary lateral sclerosis (PLS). These include 43 males and 47 females, as well as one White Hispanic female (ND15913). The age of PLS onset ranges from 19 years to 75 years. This was defined as when symptom(s) of PLS were first noted. 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. Diagnostic and Clinical Features
The phenotypic details of any single subject can be viewed through the list of panel members by clicking on the individual ID number.
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