LCR-MHBDNF Pathway Biomarkers in Cerebrospinal Fluid in Huntington's Disease Patients

This study focuses on Huntington's disease, a condition that affects the brain. Researchers are interested in understanding the role of a specific protein called Brain Derived Neurotrophic Factor (BDNF) in this disease. They aim to evaluate BDNF in the cerebrospinal fluid as a potential marker of the BDNF-TrkB signaling pathway in patients who are at a symptomatic stage of Huntington's disease. The study is important as it could help improve our understanding of the disease and potentially lead to better ways of diagnosing and treating it. The study is open to individuals aged 18 and above who have been genetically diagnosed with Huntington's disease. During the study, participants will undergo a series of tests. These include a blood test to determine the levels of BDNF, Tau, and NFL proteins, and to genotype the Val66Met polymorphism of the BDNF gene. Participants will also undergo multimodal brain MRI scans and neuropsychological tests. In a subgroup of participants, a lumbar puncture will be performed to measure the levels of BDNF, Tau, NFL, and TrkB in the cerebrospinal fluid. The study will compare these results with those from a control group. The primary outcome of the study is to compare the levels of BDNF in the cerebrospinal fluid of Huntington's disease patients with those of age-matched control subjects.