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Review article on skin biopsies for the diagnosis of synucleinopathies

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Moving forward the in vivo diagnosis of the synucleinopathies

D. Vilas

Clin Auton Res. 2019 Feb 5. doi: 10.1007/s10286-019-00595-y

link.springer.com/article/1...

"Abnormal aggregates of alpha-synuclein (α-syn) in the nervous system are the neuropathological hallmark of the synucleinopathies. Based on autopsy studies, we know that these abnormal deposits occur not only in the central nervous system in these disorders but also in the peripheral autonomic nervous system [1, 2]. The most common synucleinopathies are Parkinson disease (PD) and dementia with Lewy bodies (DLB); much less common synucleinopathies are multiple system atrophy and pure autonomic failure (PAF). The diagnosis of these diseases is currently still based on clinical criteria. A more accurate in vivo diagnosis is of major interest since it could lead to the early detection and treatment of patients affected by these diseases. However, reliable biomarkers are still lacking." ...

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