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Glucocerebrosidase Mutations and Motor Reserve in Parkinson's Disease

Authors
 Seok Jong Chung  ;  Phil Hyu Lee  ;  Young H Sohn  ;  Yun Joong Kim 
Citation
 JOURNAL OF PARKINSONS DISEASE, Vol.11(4) : 1715-1724, 2021-10 
Journal Title
JOURNAL OF PARKINSONS DISEASE
ISSN
 1877-7171 
Issue Date
2021-10
MeSH
Cohort Studies ; Glucosylceramidase* / genetics ; Humans ; Mental Status and Dementia Tests ; Mutation ; Parkinson Disease* / diagnostic imaging ; Parkinson Disease* / genetics
Keywords
Parkinson’s disease ; Parkinson’s progression markers initiative (PPMI) ; laterality ; motor reserve ; β-Glucocerebrosidase (GBA)
Abstract
Background: The concept of motor reserve explains the individual differences in motor deficits despite similar degrees of nigrostriatal dopamine depletion in Parkinson's disease (PD).

Objective: To investigate glucocerebrosidase (GBA) variants as potential determinants of motor reserve for exploratory purposes.

Methods: A total of 408 patients with drug-naïve PD were enrolled from the Parkinson's Progression Markers Initiative cohort database. All patients underwent SPECT dopamine transporter (DAT) scans and had results for Sanger sequencing of GBA. Parkinsonian motor deficits were assessed using the Movement Disorders Society Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS-III). We compared MDS-UPDRS-III scores while adjusting for DAT availability in the putamen (i.e., motor reserve) between the PD groups according to the presence of GBA mutations.

Results: Fifty-four (13.2%) patients carried GBA mutations. PD patients with GBA mutations were younger than those without mutations. There were no significant differences in sex, disease duration, years of education, and striatal DAT availability between the PD groups. PD patients with GBA mutations had higher MDS-UPDRS-III scores for the less affected side than those without mutations, despite similar levels of DAT availability in the contralateral putamen. The MDS-UPDRS-III sub-scores of the more affected side did not differ between the two PD groups.

Conclusion: The results of this study demonstrated the detrimental effect of GBA variants on individual capacity to cope with PD-related pathologies, with different impacts depending on the motor laterality.
Full Text
https://content.iospress.com/articles/journal-of-parkinsons-disease/jpd212758
DOI
10.3233/JPD-212758
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yun Joong(김윤중) ORCID logo https://orcid.org/0000-0002-2956-1552
Sohn, Young Ho(손영호) ORCID logo https://orcid.org/0000-0001-6533-2610
Lee, Phil Hyu(이필휴) ORCID logo https://orcid.org/0000-0001-9931-8462
Chung, Seok Jong(정석종) ORCID logo https://orcid.org/0000-0001-6086-3199
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/187117
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