Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

Página do item simplificado
dc.citation.issue2
dc.citation.volume16
dc.contributor.authorSgobbi de Souza, Paulo Victor [UNIFESP]
dc.contributor.authorVieira de Rezende Pinto, Wladimir Bocca [UNIFESP]
dc.contributor.authorde Rezende Batistella, Gabriel Novaes [UNIFESP]
dc.contributor.authorBortholin, Thiago [UNIFESP]
dc.contributor.authorBulle Oliveira, Acary Souza [UNIFESP]
dc.coverageNew York
dc.date.accessioned2020-07-17T14:02:33Z
dc.date.available2020-07-17T14:02:33Z
dc.date.issued2017
dc.description.abstractHereditary 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 workupen
dc.description.abstracthowever, frequently, few and unspecific data allows a low rate of definite diagnosis based solely in clinical and neuroimaging basis. Likewise, a wide group of neurological acquired and inherited disorders should be included in the differential diagnosis and properly excluded after a complete laboratorial, neuroimaging, and genetic evaluation. The aim of this review article is to provide an extensive overview regarding the main clinical and genetic features of the classical and recently described subtypes of hereditary spastic paraplegia (HSP).en
dc.description.affiliationUniv Fed Sao Paulo UNIFESP, Div Neuromuscular Dis, Dept Neurol & Neurosurg, Estado Israel St,899 Vila Clementino, BR-04022002 Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo UNIFESP, Div Neuromuscular Dis, Dept Neurol & Neurosurg, Estado Israel St,899 Vila Clementino, BR-04022002 Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent525-551
dc.identifierhttp://dx.doi.org/10.1007/s12311-016-0803-z
dc.identifier.citationCerebellum. New York, v. 16, n. 2, p. 525-551, 2017.
dc.identifier.doi10.1007/s12311-016-0803-z
dc.identifier.issn1473-4222
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54858
dc.identifier.wosWOS:000396044200023
dc.language.isoeng
dc.publisherSpringer
dc.relation.ispartofCerebellum
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectSpastic paraplegiaen
dc.subjectSPGen
dc.subjectHereditary spastic paraparesisen
dc.subjectNeurogeneticsen
dc.subjectMotor neuron diseaseen
dc.subjectSpastic ataxiasen
dc.titleHereditary Spastic Paraplegia: Clinical and Genetic Hallmarksen
dc.typeinfo:eu-repo/semantics/article
Arquivos
Coleções
EPM - Artigos