Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life
ObjectivesMutations in glucocerebrosidase (GBA1) 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 GBA1 mutations.MethodsA whole-exome sequencing analysis was used to identify the GBA1...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-11-01
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| Series: | Frontiers in Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnins.2023.1288631/full |
| _version_ | 1797449363512885248 |
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| author | Ruwei Ou Chunyu Li Qianqian Wei Kuncheng Liu Junyu Lin Tianmi Yang Yi Xiao Qirui Jiang Yangfan Cheng Yanbing Hou Lingyu Zhang Wei Song Xueping Chen Xiaohui Lai Huifang Shang |
| author_facet | Ruwei Ou Chunyu Li Qianqian Wei Kuncheng Liu Junyu Lin Tianmi Yang Yi Xiao Qirui Jiang Yangfan Cheng Yanbing Hou Lingyu Zhang Wei Song Xueping Chen Xiaohui Lai Huifang Shang |
| author_sort | Ruwei Ou |
| collection | DOAJ |
| description | ObjectivesMutations in glucocerebrosidase (GBA1) 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 GBA1 mutations.MethodsA whole-exome sequencing analysis was used to identify the GBA1 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.ResultsThe prevalence of FOG in patients with GBA1 mutations (30/95, 31.6%) was significantly higher than those in patients without GBA1 mutations (152/760, 20%) (p = 0.009). A higher (i.e., worse) Unified PD Rating Scale part III score (OR = 1.126, 95%CI = 1.061–1.194, p < 0.001) and a lower (i.e., worse) Montreal Cognitive Assessment score (OR = 0.830, 95%CI = 0.713–0.967, p = 0.017) were significantly associated with FOG in PD patients with GBA1 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, p = 0.001).ConclusionFOG is a relatively common disabling symptom in PD patients with GBA1 mutations, which is affected by motor disability and cognitive decline. Quality of life is reduced in patients with FOG and GBA1 mutations. |
| first_indexed | 2024-03-09T14:23:41Z |
| format | Article |
| id | doaj.art-9391511a8a0c41f881c7e02dadcf1e54 |
| institution | Directory Open Access Journal |
| issn | 1662-453X |
| language | English |
| last_indexed | 2024-03-09T14:23:41Z |
| publishDate | 2023-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neuroscience |
| spelling | doaj.art-9391511a8a0c41f881c7e02dadcf1e542023-11-28T07:50:23ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2023-11-011710.3389/fnins.2023.12886311288631Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of lifeRuwei Ou0Chunyu Li1Qianqian Wei2Kuncheng Liu3Junyu Lin4Tianmi Yang5Yi Xiao6Qirui Jiang7Yangfan Cheng8Yanbing Hou9Lingyu Zhang10Wei Song11Xueping Chen12Xiaohui Lai13Huifang Shang14Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaObjectivesMutations in glucocerebrosidase (GBA1) 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 GBA1 mutations.MethodsA whole-exome sequencing analysis was used to identify the GBA1 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.ResultsThe prevalence of FOG in patients with GBA1 mutations (30/95, 31.6%) was significantly higher than those in patients without GBA1 mutations (152/760, 20%) (p = 0.009). A higher (i.e., worse) Unified PD Rating Scale part III score (OR = 1.126, 95%CI = 1.061–1.194, p < 0.001) and a lower (i.e., worse) Montreal Cognitive Assessment score (OR = 0.830, 95%CI = 0.713–0.967, p = 0.017) were significantly associated with FOG in PD patients with GBA1 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, p = 0.001).ConclusionFOG is a relatively common disabling symptom in PD patients with GBA1 mutations, which is affected by motor disability and cognitive decline. Quality of life is reduced in patients with FOG and GBA1 mutations.https://www.frontiersin.org/articles/10.3389/fnins.2023.1288631/fullParkinson’s diseasefreezing of gaitGBA1 mutationquality of lifegene mutation |
| spellingShingle | Ruwei Ou Chunyu Li Qianqian Wei Kuncheng Liu Junyu Lin Tianmi Yang Yi Xiao Qirui Jiang Yangfan Cheng Yanbing Hou Lingyu Zhang Wei Song Xueping Chen Xiaohui Lai Huifang Shang Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life Frontiers in Neuroscience Parkinson’s disease freezing of gait GBA1 mutation quality of life gene mutation |
| title | Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life |
| title_full | Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life |
| title_fullStr | Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life |
| title_full_unstemmed | Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life |
| title_short | Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life |
| title_sort | freezing of gait in parkinson s disease with glucocerebrosidase mutations prevalence clinical correlates and effect on quality of life |
| topic | Parkinson’s disease freezing of gait GBA1 mutation quality of life gene mutation |
| url | https://www.frontiersin.org/articles/10.3389/fnins.2023.1288631/full |
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