Glucocerebrosidase (GBA) parkinsonism

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Glucocerebrosidase (GBA) parkinsonism. This is caused by heterozygous mutations in the GBA gene. Fully referenced neurology checklist.

Genetics and pathology

  • This is caused by heterozygous mutations in the GBA gene
  • It is the most common genetic PD risk: it accounts for 4% of cases
  • Almost 80% of the mutations are sporadic
  • There is associated Lewy body pathology

Demographic features

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Clinical features

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Differences between GBA and idiopathic PD

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Investigations

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Treatment

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References

  1. BrockmanK, Srulijes K, Hauser AK, et al. GBA-associated PD presents with nonmotor characteristics. Neurology 2012; 77:276-280.
  2. Goker-Alpan O, Masdeu JC, Kohn PD, et al. The neurobiology of glucocerebrosidase-associated parkinsonism: a position emission tomography study of dopamine synthesis and regional cerebral blood flow. Brain 2012; 235:2440-2448.
  3. Winder-Rhodes SE, Evans JR, Ban M, et al. Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain 2013; 136:392-399.
  4. Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009; 132:1783-1794.
  5. Lopez G, Kim J, Wiggs E, et al. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurol Genet 2016; 2:e57.
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