title: Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.
abstract: OBJECTIVE
  Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP).
  
  
  METHODS
  Thirty patients with SPG4-HSP and 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Scale, Brief Pain Inventory and Beck Depression Inventory. Student's t test was used to compare groups and linear regression was used to assess correlations.
  
  
  RESULTS
  Patients had higher fatigue scores than controls (31.0 ± 16.5 vs. 14.5 ± 16.0, P = 0.002) as well as pain (3.4 ± 2.7 vs. 1.0 ± 1.6, P = 0.001) and depression (12.7 ± 8.9 vs. 4.4 ± 3.8, P < 0.001, respectively). Fatigue was associated with depression and possibly with disease severity (P = 0.008 and 0.07, respectively).
  
  
  CONCLUSIONS
  Fatigue, pain and depression are frequent and often severe manifestations in patients with SPG4-HSP.
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors.forename: K R
authors.initials: KR
authors.lastname: Servelhere
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors.forename: I
authors.initials: I
authors.lastname: Faber
authors.affiliation: Medical Genetics Service, Federal University of Rio Grande do Sul - UFRGS, Porto Alegre, RS, Brazil.
authors.forename: J A M
authors.initials: JA
authors.lastname: Saute
authors.affiliation: Neurology Service, Federal University of Paraná - UFPR, Curitiba, PR, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Moscovich
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: D'Abreu
authors.affiliation: Medical Genetics Service, Federal University of Rio Grande do Sul - UFRGS, Porto Alegre, RS, Brazil.
authors.forename: L B
authors.initials: LB
authors.lastname: Jardim
authors.affiliation: Neurology Service, Federal University of Paraná - UFPR, Curitiba, PR, Brazil.
authors.forename: H A G
authors.initials: HA
authors.lastname: Teive
authors.affiliation: Department of Medical Genetics, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors.forename: I
authors.initials: I
authors.lastname: Lopes-Cendes
authors.affiliation: Department of Neurology, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors.forename: M C
authors.initials: MC
authors.lastname: Franca
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000328:Adult; D003863:Depression / Q000209:etiology / Q000503:physiopathology*; D005221:Fatigue / Q000209:etiology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010146:Pain / Q000209:etiology / Q000503:physiopathology*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000503:physiopathology*; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human
keywords: SPG4; depression; fatigue; non-motor symptoms; pain; spastic paraplegia