Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Abstract 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 neurodegenerativ...

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Main Authors: Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Icaro França Navarro Pinto, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina dos Santos Jorge, Emília Correia Souto, Paulo de Lima Serrano, Roberta Ismael Lacerda Machado, Marco Antônio Troccoli Chieia, Enrico Bertini, Acary Souza Bulle Oliveira
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Amyotrophic lateral sclerosis
Hypotonia
Progressive spastic tetraplegia
SOD1 mutation
SOD1 deficiency
Childhood neurodegenerative disorder
Online Access:https://doi.org/10.1186/s13023-021-01993-0

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