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Published in: Neurological Sciences 6/2020

01-06-2020 | Original Article

Awareness of rare and genetic neurological diseases among italian neurologist. A national survey

Authors: Michelangelo Mancuso, Massimiliano Filosto, Costanza Lamperti, Olimpia Musumeci, Filippo M Santorelli, Serenella Servidei, Enza M Valente, Massimo Zeviani, Gianluigi Mancardi, Gioacchino Tedeschi, Antonio Federico

Published in: Neurological Sciences | Issue 6/2020

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Abstract

Rare neurological diseases (RNDs) are a heterogeneous group of disorders mainly affecting the central and peripheral nervous systems, representing almost 50% of all rare diseases; this explains why neurologists are very often involved in their diagnosis, treatment and research. The purpose of this study was to quantitatively describe the awareness of RNDs among the neurological community of the Italian Society of Neurology (SIN). A survey of the Italian Neurogenetics and Rare diseases group of the SIN, similar to what was submitted to the members of the EAN Task Force on Rare Neurologic Diseases and to EAN Panels Scientific Committee Management Groups, was launched in January 2019 in order to verify the specific Italian situations and possibly the regional differences. Answers were collected online. We observed that Italian Members of the SIN Neurogenetics and Rare Neurologic Diseases Scientific Group are well aware of the burden posed by RNDs but at the national and regional level, the relative awareness is sketchy and disparate. Although many national initiatives have been undertaken to facilitate the diagnosis and management in Italy, our survey reveals that much works has to be done in supporting RNDs patients, including a deeper collaboration between politics, universities and all stakeholders in the field.
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Metadata
Title
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey
Authors
Michelangelo Mancuso
Massimiliano Filosto
Costanza Lamperti
Olimpia Musumeci
Filippo M Santorelli
Serenella Servidei
Enza M Valente
Massimo Zeviani
Gianluigi Mancardi
Gioacchino Tedeschi
Antonio Federico
Publication date
01-06-2020
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 6/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-020-04271-2

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