Article
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
Orphanet journal of rare diseases - 11 Aug 2021
de Souza Paulo Victor Sgobbi, Pinto Wladimir Bocca Vieira de Rezende, Farias Igor Braga, Badia Bruno de Mattos Lombardi, Pinto Icaro França Navarro, Costa Gustavo Carvalho, Marin Carolina Maria, Dos Santos Jorge Ana Carolina, Souto Emília Correia, Serrano Paulo de Lima, Machado Roberta Ismael Lacerda, Chieia Marco Antônio Troccoli, Bertini Enrico, Oliveira Acary Souza Bulle
Abstract excerpt
BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study...
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