Presymptomatic ALS

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by motor, cognitive, and behavioral impairment. While ALS often occurs sporadically, mutations in over thirty genes, including C9orf72 and FUS, have been associated with familial ALS. Previous research in our group has identified unusual brain activity in the cognitive and motor networks of people with ALS. However, it is unclear when and how this unusual activity emerges, whether it precedes the onset of clinical symptoms, and how it is affected by gene carrier status in those with familial ALS.

To address this problem, we harness electroencephalography (EEG) and transcranial magnetic stimulation (TMS) to identify differences in network connectivity between genetic carriers and non-carriers. Relatives of people with familial ALS and matched healthy controls undergo EEG to investigate cognitive networks; TMS of the motor cortex to investigate motor networks; and a short battery of clinical tests to examine cognitive and motor function. Relatives are also tested for the presence and size of genetic mutations associated with ALS and are asked to return for follow up visits to track potential changes over time. TMS, EEG, and clinical measures are then compared and combined to identify differences between healthy controls, gene carrier relatives, and non-carrier relatives. The goal is to produce a comprehensive picture of the effect of gene carrier status on asymptomatic relatives of people with genetic ALS.

Long term, this project aims to provide new insights into the early pathophysiology of familial ALS and to contribute to the development of biomarkers which may be used in the screening and risk stratification of gene carriers and as outcome measures in clinical trials, enabling earlier diagnosis and treatment.

We are currently inviting people who are not related to people with ALS, and asymptomatic relatives of people with familial ALS across the island of Ireland, to enroll in our study in Dublin. If you are over 18 years old and have no neurological or psychological diagnoses, please get in touch!

To get more information or to express your interest in getting involved as a study participant, contact us and mention which studies you are interested in.