Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study.

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Original abstract

<h4>Introduction</h4>Pathogenic variants in <i>GBA1</i>, the gene encoding beta-glucocerebrosidase, are significant genetic risk factors for Parkinson's disease (PD). Patients with type 1 Gaucher disease (GD1), caused by biallelic <i>GBA1</i> variants, have approximately six-fold higher lifetime risk for PD compared to the general population. However, few studies have described the clinical presentation of GD-associated PD (GD-PD) in GD1 patients. We describe the variable presentation of PD and evaluate clinical characteristics and biomarkers in a cohort of patients with concurrent diagnoses of GD-PD.<h4>Methods</h4>Retrospective case-control analysis of GD1 patients within a single academic clinic from 2010 to 2020 comparing against age- and sex-matched controls.<h4>Results</h4>Among eleven patients diagnosed with GD-PD, the median age of GD1 diagnosis was 33 years (interquartile range/IQR 28-54 years), and all were on treatment with enzyme replacement therapy (<i>n</i> = 8, 72.7%) or substrate reduction therapy (<i>n</i> = 3, 27.3%) at follow-up. The average age of onset of PD symptoms was 54.6 years old with a median age of onset of 53 years old (IQR 47-59) and four patients developing symptoms before the age of 50. The majority (<i>n</i> = 9, 81.8%) were treated with levodopa/carbidopa with or without deep brain stimulation. Within this limited cohort, neither clinical phenotype nor systemic GD biomarkers distinguished GD-PD cases from controls.<h4>Conclusions</h4>Data from this single-center cohort demonstrate considerable variability in GD-PD among GD1 individuals and suggest that GD1 patients may have increased risk of GD-PD before the age of 50. Routine screening for PD in GD1 patients starting at age 40 may aid early diagnosis and close monitoring for initiation of PD-directed treatment.

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