Skin biopsy has been recently recognized as a useful diagnostic tool in patients suffering from Parkinson's disease, Dementia with Lewy bodies and other synucleinopathies. In these patients, skin biopsy allows the identification of pathological aggregates of alpha synuclein in skin nerve fibers. Previous reports demonstrated that this test has a very high diagnostic specificity (100%) and a relatively high sensibility (up to 100% but with greater variability between studies). However, the specificity of skin biopsy applied to the diagnosis of synucleinopathies could be affected by patient's age. In fact, it is well known that inclusions of aggregates of alpha synucleins could be found in the aged human brain, even in the absence of a clinical neurological syndrome. This condition is defined Incidental Lewy body disease and is found in almost 15% of healthy subjects older than 70 years of age. However, it is not known if this condition involves also skin nerve fibers. In this study, skin biopsy is evaluated in a group of patients affected by Parkinson's disease and Dementia with Lewy bodies, as compared to a group of healthy elderly subjects (from 70 to 103 years old). Pathological alpha synuclein deposits were not found in any of the elderly healthy subjects, while they were observed in all patients. This result suggest that skin biopsy is a useful tool for the diagnosis of synucleinopathies even when applied to elderly subjects. Moreover, this study could also suggest that Incidental Lewy body disease could represent a condition of "clinically silent" synucleinopathy, without the involvement of skin nerve fibers.

La biopsia di cute nella diagnosi delle sinucleinopatie: specificità della metodica nella popolazione anziana

FADDA, LAURA
2020-02-17

Abstract

Skin biopsy has been recently recognized as a useful diagnostic tool in patients suffering from Parkinson's disease, Dementia with Lewy bodies and other synucleinopathies. In these patients, skin biopsy allows the identification of pathological aggregates of alpha synuclein in skin nerve fibers. Previous reports demonstrated that this test has a very high diagnostic specificity (100%) and a relatively high sensibility (up to 100% but with greater variability between studies). However, the specificity of skin biopsy applied to the diagnosis of synucleinopathies could be affected by patient's age. In fact, it is well known that inclusions of aggregates of alpha synucleins could be found in the aged human brain, even in the absence of a clinical neurological syndrome. This condition is defined Incidental Lewy body disease and is found in almost 15% of healthy subjects older than 70 years of age. However, it is not known if this condition involves also skin nerve fibers. In this study, skin biopsy is evaluated in a group of patients affected by Parkinson's disease and Dementia with Lewy bodies, as compared to a group of healthy elderly subjects (from 70 to 103 years old). Pathological alpha synuclein deposits were not found in any of the elderly healthy subjects, while they were observed in all patients. This result suggest that skin biopsy is a useful tool for the diagnosis of synucleinopathies even when applied to elderly subjects. Moreover, this study could also suggest that Incidental Lewy body disease could represent a condition of "clinically silent" synucleinopathy, without the involvement of skin nerve fibers.
17-feb-2020
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/284808
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