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

Inclusion Criteria10

Patients 45 years and older
Men and women
Patients diagnosed with Alzheimer's disease, frontotemporal lobe dementia, Parkinson's disease, atypical Parkinsonism, amyotrophic lateral sclerosis or normal pressure hydrocephalus
Patients that voluntarily accept to participate in the study and accept the consent form
People 45 years and older
Men and women
Subjects can be related to a patient but not by blood (for example spouse of a patient)
Subjects don't have direct family history of a neurodegenerative control
Subjects don't have any clinical findings suggesting dementia
Subjects voluntarily accept to participate in the study and accept the consent form

Exclusion Criteria6

Patients or controls that have a personal history of cerebrovascular disease, psychiatric disease, post traumatic dementia or HIV related dementia
Patients in which the diagnosis is not clear or hasn't been confirmed
Patients or controls that have a neuroinfection
Patients or controls that a diagnosed skin disease
Patients that have an "atypical" presentation of the disease
Patients or controls that have diagnosis of a coagulopathy

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.