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  1. Article ; Online: Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson's disease?

    Anis, Saar / Goldberg, Tomer / Shvueli, Ethan / Kozlov, Yuval / Redlich, Yonatan / Lavi, Naama / Lavie, Inbar / Sosero, Yuri Ludwig / Gan-Or, Ziv / Ungar, Lior / Zibly, Zion / Greenbaum, Lior / Fay-Karmon, Tsvia / Hassin-Baer, Sharon

    Parkinsonism & related disorders

    2024  , Page(s) 106008

    Abstract: Background: Deep brain stimulation (DBS) is a well-established treatment option for individuals with advanced Parkinson's disease (PD). The potential influence of the LRRK2 p.G2019S or GBA1 variants on its lasting efficacy and adverse effects should be ... ...

    Abstract Background: Deep brain stimulation (DBS) is a well-established treatment option for individuals with advanced Parkinson's disease (PD). The potential influence of the LRRK2 p.G2019S or GBA1 variants on its lasting efficacy and adverse effects should be better characterized.
    Methods: We conducted a retrospective single-center case-control study involving PD patients who were carriers of a GBA1 variant (GBA1-PD), the LRRK2 p.G2019S variant (LRRK2-PD), and non-carriers (Nc-PD). All participants underwent DBS and were followed up for at least a year. Assessments before surgery and at 1, 2, 3, 5, and 10 years post-DBS included the following: the Movement Disorder Society's Unified PD Rating Scale (MDS-UPDRS) Part III, Hoehn and Yahr scale, Levodopa Equivalent Daily Dose (LEDD) and non-motor symptoms (psychotic episodes, depressive symptoms, and cognitive decline).
    Results: The sample was composed of 103 patients (72 males, mean age at DBS surgery 61.5 ± 8.7 years, mean postoperative follow-up 7.0 ± 4.1 years). Of these, 19 were LRRK2-PD, 20 GBA1-PD, and 64 were Nc-PD. No significant differences in motor outcomes were observed between the groups. Compared to the Nc-PD patients, the GBA1-PD patients were at increased risk of both psychotic episodes [hazard ratio (HR) 2.76 (95 % CI: 1.12-6.80), p = 0.027], and cognitive decline [HR 2.28 (95 % CI: 1.04-5.00), p = 0.04].
    Conclusion: LRRK2 and GBA1 variant status did not affect the motor outcomes of DBS in PD patients. However, GBA1-PD patients were at increased risk for psychosis and cognitive decline. Further studies are required to determine the role of genetic stratification in referral to DBS.
    Language English
    Publishing date 2024-01-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2024.106008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Lack of evidence for genetic association of saposins A, B, C and D with Parkinson's disease.

    Sosero, Yuri Ludwig / Bandres-Ciga, Sara / Hassin-Baer, Sharon / Alcalay, Roy N / Gan-Or, Ziv

    Brain : a journal of neurology

    2020  Volume 143, Issue 9, Page(s) e72

    MeSH term(s) Humans ; Parkinson Disease/genetics ; Saposins
    Chemical Substances Saposins
    Language English
    Publishing date 2020-08-14
    Publishing country England
    Document type Letter ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awaa214
    Database MEDical Literature Analysis and Retrieval System OnLINE

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