title: Infantile-onset ascending spastic paraplegia phenotype associated with SPAST mutation.
authors.affiliation: Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors.forename: Paulo Victor Sgobbi
authors.initials: PV
authors.lastname: de Souza
authors.affiliation: Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors.forename: Thiago
authors.initials: T
authors.lastname: Bortholin
authors.affiliation: Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors.forename: Fernando George Monteiro
authors.initials: FG
authors.lastname: Naylor
authors.affiliation: Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: wladimirbvrpinto@gmail.com.
authors.forename: Wladimir Bocca Vieira
authors.initials: WB
authors.lastname: de Rezende Pinto
authors.affiliation: Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors.forename: Acary Souza Bulle
authors.initials: AS
authors.lastname: Oliveira
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human
keywords: Hereditary spastic paraplegia; IAHSP; SPG4; Spasticity