Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Fernando FreuaMariana Espíndola de Castro AlmeidaPaulo Ribeiro NóbregaAnderson Rodrigues Brandáo de PaivaBruno Della Ripa Rodrigues AssisPaulina CunhaLúcia Inês Macedo-SouzaClarissa BuenoDavid S LynchHenry HouldenLeandro Tavares LucatoFernando Kok

Published in: Cold Spring Harbor molecular case studies (2022)

Clinical diagnosis of early onset complicated hereditary spastic paraplegia was made in all patients. Two patients were initially suspected of having SPG11 due to thinning of the corpus callosum. As argininemia may present with a highly penetrant phenotype of spastic paraplegia associated with additional symptoms, this disease may represent a specific entity amongst the complicated HSPs.

Keyphrases

early onset
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
cerebral palsy
late onset
pulmonary embolism
smoking cessation