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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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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Synucleins
Pure Autonomic Failure
Lewy Body Disease
Skin
Multiple System Atrophy
Parkinson Disease
Autonomic Pathways
Nerve Fibers
Amyloid
Serine
Epitopes
Healthy Volunteers
Phosphorylation
Sensitivity and Specificity
Antibodies

ASJC Scopus subject areas

  • General

Cite this

Skin α-synuclein deposits differ in clinical variants of synucleinopathy : an in vivo study. / Donadio, V.; Incensi, A.; Ali El-Agnaf, Omar; Rizzo, G.; Vaikath, Nishant; Del Sorbo, F.; Scaglione, C.; Capellari, S.; Elia, A.; Stanzani Maserati, M.; Pantieri, R.; Liguori, R.

In: Scientific Reports, Vol. 8, No. 1, 24.09.2018.

Research output: Contribution to journalArticle

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, vol. 8, no. 1. https://doi.org/10.1038/s41598-018-32588-8
Donadio, V. ; Incensi, A. ; Ali El-Agnaf, Omar ; Rizzo, G. ; Vaikath, Nishant ; Del Sorbo, F. ; Scaglione, C. ; Capellari, S. ; Elia, A. ; Stanzani Maserati, M. ; Pantieri, R. ; Liguori, R. / Skin α-synuclein deposits differ in clinical variants of synucleinopathy : an in vivo study. In: Scientific Reports. 2018 ; Vol. 8, No. 1.
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