@article{2fe6b4b97d1246ca8eab8fe2524eb1ab,
title = "Expanding the genotypic and phenotypic spectrum of Beta-propeller potein-associated neurodegeneration",
author = "Edoardo Monfrini and Pierluigi Tocco and Sara Bonato and Mattia Tosi and Valentina Melzi and Emanuele Frattini and Giulia Franco and Stefania Corti and Comi, {Giacomo Pietro} and Nereo Bresolin and {Di Fonzo}, Alessio",
note = "Funding Information: Beta-propeller protein-associated neurodegeneration (BPAN) is a very rare early-onset neurodevelopmental-neurodegenerative disorder due to X-linked dominant mutations of the WDR45 gene [1,2]. One hundred and twenty-eight BPAN patients have been described so far [3]. BPAN, also known as neurodegeneration with brain iron accumulation 5 (NBIA5) or ?static encephalopathy of childhood with neurodegeneration in adulthood? (SENDA), is characterized by global early psychomotor delay and epilepsy, followed, in young adulthood, by progressive dystonia, parkinsonism and cognitive deterioration [4]. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = mar,
doi = "10.1111/ene.14679",
language = "English",
volume = "28",
pages = "e25--e27",
journal = "European Journal of Neurology",
issn = "1351-5101",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "3",
}