Expression of Proteinopathies in Skin Biopsies of Patients With Neurodegenerative Disorders

What this Trial Is About

Researchers are studying how certain proteins that clump together in the brain, such as alpha-synuclein, amyloid-beta, phosphorylated tau, and TDP-43, appear in skin samples from people with neurodegenerative diseases like Alzheimer's, frontotemporal dementia, Parkinson's disease, atypical Parkinsonism, amyotrophic lateral sclerosis, and normal pressure hydrocephalus. The study compares these protein patterns in skin biopsies between patients with these diseases, those with normal pressure hydrocephalus, and healthy individuals without neurodegenerative conditions. This observational study collects skin biopsies from participants to analyze the presence and pattern of these protein clumps using immunohistochemistry and immunofluorescence techniques. Participants are grouped into those with neurodegenerative diseases, those with normal pressure hydrocephalus, and healthy controls matched by age but without personal or family history of neurodegenerative disorders. The analysis aims to identify specific patterns that differentiate these groups. Participants will be recruited and evaluated during a single visit lasting about one hour, during which the skin biopsy is taken. The researchers will then analyze the samples and compare the protein aggregation patterns, a process expected to take up to two years for final reporting. The study involves detailed clinical evaluation and follows strict inclusion and exclusion criteria to ensure reliable comparisons across groups.

Proteinopathies Expression in Skin of Neurodegenerative Disorders