Objective: Mutations in glucocerebrosidase (GBA) can change the phenotype of Parkinson’s disease (PD). This study aimed to explore the clinical characteristics of freezing of gait (FOG) in PD patients carrying with GBA mutation.

Background: To date, the clinical symptoms of FOG in the PD population carrying GBA mutations have yet to be reported.

Method: A whole-exome sequencing analysis was used to identify the GBA mutations and exclude other PD-related gene mutations. A forward binary logistic regression model was conducted to identify the associated factors of FOG.

Results: We recruited 95 patients with GBA mutation and thirty (31.6%) patients reported FOG. A higher Unified PD Rating Scale part III score (OR = 1.126, 95%CI = 1.061 – 1.194, P < 0.001) and a lower Montreal Cognitive Assessment score (OR = 0.830, 95%CI = 0.713 – 0.967, P = 0.017) were significantly associated with FOG in PD patients carrying with GBA mutation. The presence of FOG was significantly associated with the decreased score of PD Questionnaire 39 after adjustment for sex, age, disease duration, motor score, and non-motor score (P < 0.05).

Conclusion: FOG is a relatively common disabling symptom in PD patients carrying with GBA mutation, which is affected by motor disability and cognitive decline. Quality of life is reduced in patients with FOG and GBA mutation.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/freezing-of-gait-in-parkinsons-disease-with-glucocerebrosidase-mutations-prevalence-clinical-correlates-and-effect-on-quality-of-life/