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Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
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Gaucher disease and the synucleinopathies.

Kathleen S Hruska1, Ozlem Goker-Alpan, Ellen Sidransky

  • 1Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

Journal of Biomedicine & Biotechnology
|October 19, 2006
PubMed
Summary

Mutations in the glucocerebrosidase gene are linked to synucleinopathies like Parkinson disease. While not all carriers develop these conditions, they represent a significant risk factor for developing parkinsonism.

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Area of Science:

  • Neurogenetics
  • Lysosomal Storage Disorders

Background:

  • Gaucher disease results from glucocerebrosidase deficiency.
  • Synucleinopathies, including Parkinson disease and Lewy body dementia, are characterized by alpha-synuclein aggregation.
  • Recent observations suggest a genetic link between Gaucher disease and synucleinopathies.

Purpose of the Study:

  • To investigate the association between glucocerebrosidase mutations and synucleinopathies.
  • To determine if glucocerebrosidase gene mutations are a risk factor for developing parkinsonism.

Main Methods:

  • Review of clinical observations of patients with both Gaucher disease and parkinsonism.
  • Autopsy studies of affected individuals revealing synuclein-positive inclusions.
  • Genetic screening of patients with parkinsonism for glucocerebrosidase mutations.

Main Results:

  • Patients with Gaucher disease have been observed to develop parkinsonism with Lewy bodies.
  • A higher than expected frequency of glucocerebrosidase mutations was found in patients with parkinsonism.
  • Glucocerebrosidase mutation carriers exhibit a spectrum of parkinsonian phenotypes, from Parkinson disease to Lewy body dementia.

Conclusions:

  • Mutations in the glucocerebrosidase gene are a significant risk factor for synucleinopathies.
  • While most carriers do not develop parkinsonism, the genetic link is established.
  • Further research is warranted to understand the underlying mechanisms connecting Gaucher disease and synucleinopathies.