Hyposmia and cognitive impairment in Gaucher disease patients and carriers

Mov Disord. 2012 Apr;27(4):526-32. doi: 10.1002/mds.24945. Epub 2012 Feb 16.


The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory function (University of Pennsylvania Smell Identification Test), cognitive function (Mini-Mental State Examination, Montreal Cognitive Assessment), rapid eye movement sleep disorder, autonomic symptoms, and parkinsonian motor signs (Unified Parkinson's Disease Rating Scale part III, Purdue pegboard). Olfactory function scores were significantly lower in Gaucher disease patients (P = .010) and heterozygous carriers (P < .001) than in controls. Cognitive assessment scores were significantly lower in Gaucher disease patients (P = .002) and carriers (P = .002) than in controls. Unified Parkinson's Disease Rating Scale motor subscale scores were significantly higher in Gaucher disease patients (P < .001) and heterozygotes (P = .0010) than in controls. There was no difference in scores for symptoms of rapid eye movement sleep disorder or autonomic dysfunction. Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Cognition Disorders / diagnosis
  • Cognition Disorders / etiology*
  • Cognition Disorders / genetics
  • Female
  • Gaucher Disease / complications*
  • Gaucher Disease / genetics*
  • Glucosylceramidase / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neuropsychological Tests
  • Odorants
  • Olfaction Disorders / diagnosis
  • Olfaction Disorders / etiology*
  • Olfaction Disorders / genetics
  • Severity of Illness Index
  • Smell / physiology
  • Statistics as Topic
  • Statistics, Nonparametric


  • Glucosylceramidase