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Parkinson disease in Gaucher disease
Federico Rodriguez-Porcel1, Alberto J Espay1, Miryam Carecchio2,3,4
1James J. and Joan A. Gardner Center for Parkinson disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, 260 Stetson St., Suite 2300, Cincinnati, OH 45267-0525 USA.
Journal of Clinical Movement Disorders
|May 27, 2017
Summary
Gaucher disease (GD) patients have an increased risk of developing Parkinson disease (PD). The GBA mutation type may influence symptom severity in patients with both GD and PD.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Gaucher disease (GD) is a metabolic disorder caused by mutations in the glucocerebrosidase gene (GBA).
- GD is inherited in an autosomal recessive pattern.
- GD patients have a significantly higher risk of developing Parkinson disease (PD).
Observation:
- Two patients with Gaucher disease who developed Parkinson disease at different stages of their illness were studied.
- The coexistence of Gaucher disease and Parkinson disease was reviewed in existing literature.
Findings:
- The study highlights the link between Gaucher disease and Parkinson disease.
- A potential correlation between the specific GBA mutation and the severity of combined GD and PD symptoms is suggested.
Implications:
- Understanding the genetic basis of GD and its association with PD can inform diagnostic and therapeutic strategies.
- Further research into GBA mutations may lead to personalized medicine approaches for patients with co-occurring GD and PD.
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