Research project The objective of this project is to study the clinical neurological and cognition features of ALS with an emphasis on ALS caused by a GGGGCC-repeat expansion of the gene C9ORF72.
A repeat expansion of the gene C9ORF72 can be found in ALS patients, frontotemporal dementia patients and, though only rarely, in patients with schizophrenia or parkinsonism. How the same mutation can cause such diverse phenotypes is not understood and is the overall theme of this project.
Amyotrophic Lateral Sclerosis (ALS) was traditionally considered a neurodegenerative disease affecting the UMN and LMN systems. A number of studies suggest that there are many types of ALS. Clinical observations and autopsy studies find that in many subtypes of ALS other parts of the nervous system are involved, sometimes before motor symtoms appear.
The gene C9ORF72 is pleomorphic and repeat expansions are found in 10–14% of our patients with ALS, around 5% of frontotemporal dementia patients and, though only rarely, in patients with schizophrenia or parkinsonism. How the same mutation can cause such diverse phenotypes is not understood and is the overall theme of this project.
