RecruitingNCT06528964

Proteinopathies Expression in Skin of Neurodegenerative Disorders

Expression of Proteinopathies in Skin Biopsies of Patients With Neurodegenerative Disorders

Sponsor

Universidad Autonoma de San Luis Potosí

Enrollment

40 participants

Start Date

Dec 20, 2023

Study Type

OBSERVATIONAL

Conditions

Amyotrophic Lateral Sclerosis Alzheimer Disease Parkinson Disease Frontotemporal Dementia Normal Pressure Hydrocephalus Atypical Parkinsonism

Summary

The goal of this observational study is to compare the aggregation pattern of proteinopathies (alpha-synuclein, amyloid-beta, phosphorylated tau and transactive response DNA -binding protein 43 \[TDP43\]) in skin biopsies of patients with a neurodegenerative disease like Alzheimer's disease, frontotemporal lobe dementia, Parkinson's disease, atypical Parkinsonism, amyotrophic lateral sclerosis or normal pressure hydrocephalus. The main question it aims to answer is: * Is there a specific pattern of aggregation of proteinopathies in skin biopsies in each neurodegenerative disease in comparison to healthy control subjects? Skin biopsies will be analyzed using immunohistochemistry and immunofluorescence for detection of alpha-synuclein, amyloid-beta, phosphorylated tau and TAR DNA binding protein 43, and the aggregation patterns will be compared between patients with a neurodegenerative disease vs patient with normal pressure hydrocephalus vs healthy control subjects.

Eligibility

Min Age: 45 Years

Plain Language Summary

Simplified for easier understanding

This study is investigating whether abnormal proteins associated with brain diseases like Alzheimer's, Parkinson's, and ALS can be detected in skin biopsies (small skin samples). If successful, a simple skin test could help diagnose these conditions earlier and more easily. **You may be eligible if...** - You are 45 years or older - You have been diagnosed with Alzheimer's disease, frontotemporal dementia, Parkinson's disease, atypical Parkinsonism, ALS (amyotrophic lateral sclerosis), or normal pressure hydrocephalus - You are willing to provide a skin sample **You may NOT be eligible if...** - You do not have one of the listed neurological diagnoses - You are unwilling or unable to undergo a minor skin biopsy procedure - You are under 45 years old Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

DIAGNOSTIC_TESTImmunohistochemistry and immunofluorescence

Skin biopsies will be analyzed using immunohistochemistry and immunofluorescence to detect the presence of aggregated a-synuclein, amyloid-b, p-TAU and TDP-43.