title: SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.
abstract: BACKGROUND
  The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1.
  
  
  METHODS
  We prospectively evaluated the pyramidal signs and spasticity in SCA1 patients, and correlated the data with genetic and clinical features.
  
  
  RESULTS
  In this study, we observed that spasticity may be an early and presenting feature of SCA1, since 3 patients had pyramidal signs and spasticity as the first neurological sign. SCA1 patients with spasticity were significantly younger.
  
  
  CONCLUSIONS
  SCA1 may rarely present with pure spastic paraplegia, resembling hereditary spastic paraplegia, before the appearance of cerebellar signs. This observation may confuse the neurologist when a genetic testing is requested for an autosomal dominant spastic paraplegia, directing research to hereditary spastic paraplegia group.
authors.affiliation: Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. Electronic address: jlpedroso.neuro@gmail.com.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.affiliation: Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
authors.forename: Paulo Victor Sgobbi
authors.initials: PV
authors.lastname: de Souza
authors.affiliation: Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
authors.forename: Wladimir Bocca Vieira de Rezende
authors.initials: WB
authors.lastname: Pinto
authors.affiliation: Center of Health Sciences, Universidade Estadual do Ceará, CE, Brazil.
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.affiliation: Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
authors.forename: Marcus Vinicius Cristino
authors.initials: MV
authors.lastname: Albuquerque
authors.affiliation: Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.affiliation: Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, Brazil.
authors.forename: Laura Bannach
authors.initials: LB
authors.lastname: Jardim
authors.affiliation: Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
authors.forename: Orlando Graziani Povoas
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000145:classification*; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000145:classification / Q000453:epidemiology / Q000209:etiology*; D009896:Optic Atrophy / Q000145:classification*; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000145:classification*; D020754:Spinocerebellar Ataxias / Q000145:classification* / Q000150:complications*
keywords: Pyramidal signs; SCA; SCA1; Spasticity; Spinocerebellar ataxia type 1