AUTHOR=Ou Ruwei , Li Chunyu , Wei Qianqian , Liu Kuncheng , Lin Junyu , Yang Tianmi , Xiao Yi , Jiang Qirui , Cheng Yangfan , Hou Yanbing , Zhang Lingyu , Song Wei , Chen Xueping , Lai Xiaohui , Shang Huifang 

TITLE=Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life

JOURNAL=Frontiers in Neuroscience

VOLUME=17

YEAR=2023

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2023.1288631

DOI=10.3389/fnins.2023.1288631

ISSN=1662-453X

ABSTRACT=<sec id="sec1"><title>Objectives</title><p>Mutations in glucocerebrosidase (<italic>GBA1</italic>) can change the clinical phenotype of Parkinson’s disease (PD). This study aimed to explore the clinical characteristics of freezing of gait (FOG) in PD patients with <italic>GBA1</italic> mutations.</p></sec><sec id="sec2"><title>Methods</title><p>A whole-exome sequencing analysis was used to identify the <italic>GBA1</italic> mutations (pathogenic or likely pathogenic) and exclude other PD-related gene mutations. A forward binary logistic regression model was conducted to identify the associated factors of FOG. The stepwise multiple linear regression analysis models were used to explore the effect of FOG on quality of life.</p></sec><sec id="sec3"><title>Results</title><p>The prevalence of FOG in patients with <italic>GBA1</italic> mutations (30/95, 31.6%) was significantly higher than those in patients without <italic>GBA1</italic> mutations (152/760, 20%) (<italic>p</italic> = 0.009). A higher (i.e., worse) Unified PD Rating Scale part III score (OR = 1.126, 95%CI = 1.061–1.194, <italic>p</italic> &lt; 0.001) and a lower (i.e., worse) Montreal Cognitive Assessment score (OR = 0.830, 95%CI = 0.713–0.967, <italic>p</italic> = 0.017) were significantly associated with FOG in PD patients with <italic>GBA1</italic> mutations. The presence of FOG was significantly associated with the decreased (i.e., worse) score of PD Questionnaire 39 after adjustment for sex, age, disease duration, motor score, and non-motor score (B = 14.981, <italic>p</italic> = 0.001).</p></sec><sec id="sec4"><title>Conclusion</title><p>FOG is a relatively common disabling symptom in PD patients with <italic>GBA1</italic> mutations, which is affected by motor disability and cognitive decline. Quality of life is reduced in patients with FOG and <italic>GBA1</italic> mutations.</p></sec>