The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.
Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene.
Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.
Columbia University
Lead sponsor
Simons Foundation
Collaborator
New York University
Collaborator
Hackensack Meridian Health
Collaborator
Universitätsklinikum Hamburg-Eppendorf
Collaborator