Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations

Eur J Neurol. 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839.

Abstract

Background and purpose: 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.

Keywords: SPG4; depression; fatigue; non-motor symptoms; pain; spastic paraplegia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adult
  • Depression / etiology
  • Depression / physiopathology*
  • Fatigue / etiology
  • Fatigue / physiopathology*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense
  • Pain / etiology
  • Pain / physiopathology*
  • Spastic Paraplegia, Hereditary / complications
  • Spastic Paraplegia, Hereditary / physiopathology*
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human

Supplementary concepts

  • Spastic paraplegia 4, autosomal dominant