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Neuropsychiatric endophenotypic analysis of ALS probands in Ireland

Amyotrophic Lateral Sclerosis (ALS) is a progressive and ultimately fatal neurodegenerative disorder that causes muscle paralysis and loss of movement. ALS is thought to exist in two broad forms- those in whom there is a family history of the disease (Familial ALS, FALS) and those that seem to occur sporadically (SALS). FALS accounts for 5-20% of all ALS cases and is associated with mutations of specific genes. In Ireland the most common genetic alteration in ALS patients is an expansion of the C9orf72 gene. While loss of motor function is the main symptom in diagnosed patients, recent research in Irish ALS patients has identified thinking changes in a majority of patients. Interestingly, high rates of psychiatric disease, including schizophrenia have been identified in relatives of diagnosed ALS patients. This suggests the presence of inherited genes that can cause different physical characteristics in people. These are known as pleiotrophic genes. This project aims to further analyse and explore these overlapping neurological and psychiatric disorders in ALS patients and their families. The goal of this project is to help to identify the pleiotropic genes responsible for these overlapping disorders, and to help to develop new treatments for these conditions.