Mapping neuroimaging phenotypes in motor neurone disease

There is an urgent need for improved biomarkers to support early and accurate diagnosis of motor neurone disease (MND), provide disease prognosis, and to act as meaningful measures for disease progression in clinical trials.

Brain imaging has traditionally been uninformative diagnostically in MND. However, using currently available technology, subtle abnormalities have been reported in the corticospinal tracts on standard magnetic resonance imaging (MRI) and small studies using diffusion tensor imaging (DTI) to map white matter tracts have shown reduced integrity in the corticospinal tracts and reduced frontal and global connectivity respectively.

We plan to recruit people with MND prospectively to a new brain imaging study using bespoke multi-modal MRI including high resolution DTI and resting state functional connectivity data. We will correlate brain imaging findings with detailed phenotypic information collected at clinical assessments as part of the CARE-MND platform, including different clinical subtypes, cognitive assessments (Edinburgh Cognitive ALS Screen), next-generation sequencing data and post-mortem neuropathology findings.

The model developed here will be applied to a multicentre study across Scotland to inform future early diagnosis, prognostic modelling and disease-modifying intervention.