Dr. Roisin Mc Mackin

It is well established that a long period of degeneration occurs in amyotrophic lateral sclerosis (ALS) before the symptoms begin. However, diagnosis of ALS currently depends on muscle weakness emerging. As ALS cannot be diagnosed until symptoms are apparent, potential drug treatments cannot be offered until the nervous system has already been extensively damaged. This dramatically limits the chances of the treatment halting or reversing the effects of ALS. A measurement that can detect ALS at an earlier stage, before clinically discernible signs emerge, is urgently needed. Those carrying long hexanucleotide repeat expansions in the C9orf72 gene are at greater risk of developing ALS and/or frontotemporal dementia (FTD). We and others have demonstrated that measurements of nervous system function, recorded with electroencephalography (EEG) and transcranial magnetic stimulation (TMS), can directly detect ALS/FTD-related changes in brain function prior to symptoms being detected. We now aim to perform a larger, more extensive study in individuals carrying the ALS/FTD-associated C9orf72 mutation, to determine the most informative brain function changes that are predictive of if/how the disease will emerge.