Vincenzo Donadio1. 1. IRCCS Istituto Delle Scienze Neurologiche di Bologna (Italy), UOC Clinica Neurologica, Via Altura 3, 40139, Bologna, Italy. vincenzo.donadio@unibo.it.
Abstract
PURPOSE: The in vivo diagnosis of synucleinopathies is an important research aim since clinical diagnostic criteria show low accuracy. The skin innervation, especially the autonomic subdivision, is a useful region to search for abnormal α-syn aggregates in synucleinopathies since the peripheral sympathetic nerves can be the earliest-affected neural region and autonomic symptoms may precede the classical symptoms of these disorders. METHODS: The major advantages of skin biopsy as an in vivo diagnostic tool for synucleinopathies are that it is an inexpensive and easy-to-perform technique requiring only limited facilities, and that it is repeatable in long-term studies as it causes only minor discomfort to the patient. RESULTS: This review analyzes current progress in this area of research that may facilitate the standardization of this method, potentially eliminating differences among laboratories in the implementation of the method. CONCLUSIONS: The most suitable and commonly used technique for identifying in vivo α-syn aggregates in skin nerves is indirect immunofluorescence, although several aspects of this approach need to be standardized, particularly when synucleinopathies without autonomic failure present a patchy distribution of abnormal α-syn aggregates in skin nerves. By contrast, synucleinopathies with autonomic failure may present widespread diffusion of abnormal aggregates in autonomic skin nerves.
PURPOSE: The in vivo diagnosis of synucleinopathies is an important research aim since clinical diagnostic criteria show low accuracy. The skin innervation, especially the autonomic subdivision, is a useful region to search for abnormal α-syn aggregates in synucleinopathies since the peripheral sympathetic nerves can be the earliest-affected neural region and autonomic symptoms may precede the classical symptoms of these disorders. METHODS: The major advantages of skin biopsy as an in vivo diagnostic tool for synucleinopathies are that it is an inexpensive and easy-to-perform technique requiring only limited facilities, and that it is repeatable in long-term studies as it causes only minor discomfort to the patient. RESULTS: This review analyzes current progress in this area of research that may facilitate the standardization of this method, potentially eliminating differences among laboratories in the implementation of the method. CONCLUSIONS: The most suitable and commonly used technique for identifying in vivo α-syn aggregates in skin nerves is indirect immunofluorescence, although several aspects of this approach need to be standardized, particularly when synucleinopathies without autonomic failure present a patchy distribution of abnormal α-syn aggregates in skin nerves. By contrast, synucleinopathies with autonomic failure may present widespread diffusion of abnormal aggregates in autonomic skin nerves.
Entities:
Keywords:
Dementia with Lewy bodies; Idiopathic Parkinson’s disease; Phosphorylated α-synuclein; Pure autonomic failure; Skin biopsy
Authors: Charles H Adler; Thomas G Beach; Joseph G Hentz; Holly A Shill; John N Caviness; Erika Driver-Dunckley; Marwan N Sabbagh; Lucia I Sue; Sandra A Jacobson; Christine M Belden; Brittany N Dugger Journal: Neurology Date: 2014-06-27 Impact factor: 9.910