Proteinopathies Expression in Skin of Neurodegenerative Disorders

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

Inclusion Criteria for patients:

* 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

Inclusion Criteria healthy control subjects:

* 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 Criteria:

* 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

Conditions7

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