Skin α-synuclein deposits differ in clinical variants of synucleinopathy: an in vivo study

V. Donadio, A. Incensi, Omar Ali El-Agnaf, G. Rizzo, Nishant Vaikath, F. Del Sorbo, C. Scaglione, S. Capellari, A. Elia, M. Stanzani Maserati, R. Pantieri, R. Liguori

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Abstract

We aimed to characterize in vivo α-synuclein (α-syn) aggregates in skin nerves to ascertain: 1) the optimal marker to identify them; 2) possible differences between synucleinopathies that may justify the clinical variability. We studied multiple skin nerve α-syn deposits in 44 patients with synucleinopathy: 15 idiopathic Parkinson's disease (IPD), 12 dementia with Lewy Bodies (DLB), 5 pure autonomic failure (PAF) and 12 multiple system atrophy (MSA). Ten healthy subjects were used as controls. Antibodies against native α-syn, C-terminal α-syn epitopes such as phosphorylation at serine 129 (p-syn) and to conformation-specific for α-syn mature amyloid fibrils (syn-F1) were used. We found that p-syn showed the highest sensitivity and specificity in disclosing skin α-syn deposits. In MSA abnormal deposits were only found in somatic fibers mainly at distal sites differently from PAF, IPD and DLB displaying α-syn deposits in autonomic fibers mainly at proximal sites. PAF and DLB showed the highest p-syn load with a widespread involvement of autonomic skin nerve fibers.

IN CONCLUSION: 1) p-syn in skin nerves was the optimal marker for the in vivo diagnosis of synucleinopathies; 2) the localization and load differences of aggregates may help to identify specific diagnostic traits and support a different pathogenesis among synucleinopathies.

Original languageEnglish
Number of pages1
JournalScientific Reports
Volume8
Issue number1
DOIs
Publication statusPublished - 24 Sep 2018

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Donadio, V., Incensi, A., Ali El-Agnaf, O., Rizzo, G., Vaikath, N., Del Sorbo, F., Scaglione, C., Capellari, S., Elia, A., Stanzani Maserati, M., Pantieri, R., & Liguori, R. (2018). Skin α-synuclein deposits differ in clinical variants of synucleinopathy: an in vivo study. Scientific Reports, 8(1). https://doi.org/10.1038/s41598-018-32588-8