Navegando por Palavras-chave "Hereditary spastic paraparesis"

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    Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
    (Springer, 2017) Sgobbi de Souza, Paulo Victor [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; de Rezende Batistella, Gabriel Novaes [UNIFESP]; Bortholin, Thiago [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
    Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade. Clinical characterization of individual and familial history represents the main step during diagnostic workup