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Published on: June 18, 2018
Parkinsonism associated with glucocerebrosidase mutation
Mun-Kyung Sunwoo1, Seung-Min Kim, Sarah Lee
1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Journal of Clinical Neurology (Seoul, Korea)
|July 23, 2011
Summary
This study highlights a Korean family with Parkinson's disease (PD) linked to mutations in the β-glucocerebrosidase gene (GBA). These findings reinforce GBA mutations as a significant genetic risk factor for Parkinson's disease.
Area of Science:
- Genetics
- Neurology
- Lysosomal Storage Diseases
Background:
- Gaucher's disease is a lysosomal storage disorder caused by mutations in the β-glucocerebrosidase gene (GBA).
- Growing evidence links GBA mutations to an increased risk of developing Parkinson's disease (PD).
Purpose of the Study:
- To report on a Korean family presenting with parkinsonism and associated GBA mutations.
- To further investigate the genetic link between GBA mutations and Parkinson's disease in a familial context.
Main Methods:
- Clinical assessment of parkinsonian features in affected individuals.
- Genetic analysis to identify mutations in the GBA gene.
- Dopamine transporter imaging using (18)F-fluoropropylcarbomethoxyiodophenylnortropane positron-emission tomography (PET).
Main Results:
- A 44-year-old woman diagnosed with Gaucher's disease and double GBA mutations (S271G and R359X) exhibited parkinsonian symptoms.
- Her sister, diagnosed with PD, carried a heterozygous R359X GBA mutation.
- PET scans showed reduced dopamine transporter uptake in the putamen of both patients.
Conclusions:
- This case study presents Korean familial instances of Parkinson's disease associated with GBA mutations.
- The findings strengthen the established association between GBA gene mutations and the pathogenesis of Parkinson's disease.
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