The Research Process

This project began with an assessment of the HSP community’s needs. All of the available published scholarly articles available on HSPs with a mention of white matter abnormalities were reviewed. The MRIs available in these articles were reviewed by 3 independent raters blind to the diagnosis of each MRI, and inter-rater consensus was reached.

The MRI findings were compiled into a database, along with additional information, and sorted by each gene. This database was then used to train an algorithm to detect and best-match white matter abnormalities that are seen on MRI. This algorithm was used to develop the tool found here.


Which forms of HSP have documented white matter abnormalities?

We have performed an extensive literature review to identify the HSP forms with documented white matter abnormalities. Based on our review, these are the forms that can be associated with white matter involvement.