Understanding and managing parkinsonism in patients with glucocerebrosidase mutations

Abstract

Introduction: Identification of an association between mutations in the glucocerebrosidase gene (GBA1) and the development of parkinsonism has contributed to a greater understanding of the role of lysosomal function in neuronal degeneration. This review will discuss the phenotypic presentation of patients with GBA1-associated parkinsonism. Some treatment strategies will be discussed although treatment studies in this cohort are limited.

Areas covered: Current literature suggests that parkinsonism associated with GBA1 mutations may have specific characteristics distinct from idiopathic Parkinson’s disease or parkinsonism due to other genetic mutations. In this review, we performed an electronic search in the PubMed database for papers using the terms ‘Parkinson disease’, ‘parkinsonism’, ‘Gaucher disease’, and ‘GBA1’. Papers were selected if they discussed or described clinical presentation, treatment and current research efforts related to these terms.

Expert opinion: Although there are no studies identifying treatments specific to patients with GBA1-associated parkinsonism, careful phenotypic characterization is crucial for the elucidation of the interaction between glucocerebrosidase and α-synuclein as well as for proper determination of disease prognosis and appropriate clinical counseling.

Keywords:

• chaperones
• Gaucher disease
• glucocerebrosidase
• parkinsonism

Declaration of interest

This work was supported by the Intramural Research Programs of the National Human Genome Research Institute and the National Institutes of Health. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents, received or pending, or royalties.

Notes

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