Mutations in the SYNGAP1 gene were first described in 2009 in patients with non-syndromic intellectual disability. Since that first description, a number of subsequent reports have provided additional information about the breadth of symptoms associated with SYNGAP1 mutations. While this work has provided a general clinical picture, it has failed to provide quantitative natural history data that will be necessary to identify useful biomarkers for future clinical trials.
One phenotype described in multiple reports includes abnormalities in walking (gait). While this has been described qualitatively, it has not been investigated quantitatively in patients with SYNGAP1 mutations. We propose detailed gait analysis in a prospective study as a prelude to submission of a larger scale prospective natural history study. These data will be useful as quantitative biomarkers for future clinical trials for novel therapies for SYNGAP1-related disorder.
A SYNGAP1 Foundation Funded Study