Natural History and Biomarkers of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Caused by the C9ORF72 Gene Mutation

Plain-language summary

Background: \- Some people have a mutation in the C9ORF72 gene that causes amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). The mutation causes a small piece of DNA to repeat itself thousands of times. The C9ORF gene mutation mostly occurs in families. In those families, some persons have ALS and others have FTD. Occasionally the C9ORF gene mutation occurs in persons without a family history. Researchers want to understand how this gene causes different diseases. They will study how symptoms caused by the C9ORF gene develop and change over time. They will measure symptoms that occur in ALS and in FTD. In particular, they will measure strength, ability to move, thinking, and memory. They will also see if other tests are associated with progression of disease. These tests, called biomarkers, may help detect or measure C9ORF72 disease in the future. Objectives: \- To understand how symptoms change over time in people with mutations in a gene called C9ORF72, which causes ALS and FTD. Eligibility: \- Adults over age 18 who have this genetic mutation Design: * Participants will have up to 4 in-person visits and 3 telephone interviews over 3 years. Each in-person visit may take place over several days. They may be either inpatient or outpatient visits. * At each visit, participants will undergo a series of brain, language, and behavior tests. These will include: * Magnetic resonance imaging (MRI) of the brain. This uses magnets, radio waves, and computers to produce detailed pictures of the brain. * Collecting spinal fluid. The clinician will make the participant s back numb and then insert a needle to collect fluid. \<TAB\>- Blood samples will be taken. \<TAB\>- Participants will be asked to perform several language and movement tests. \<TAB\>- Small skin samples will be taken on one visit * Between visits, participants will answer questions about their health over the phone 3 times.

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