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  1. Article ; Online: Navigating the open sea of commercial genetic testing in Parkinson's disease.

    Mata, Ignacio F

    Parkinsonism & related disorders

    2021  Volume 92, Page(s) 105–106

    MeSH term(s) Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Genetic Testing/standards ; Genetic Testing/trends ; Humans ; Parkinson Disease/genetics
    Language English
    Publishing date 2021-10-29
    Publishing country England
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2021.10.027
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  2. Article ; Online: Steering the genes into the field of deep brain stimulation.

    Salles, Philippe A / Mata, Ignacio F

    Parkinsonism & related disorders

    2022  Volume 103, Page(s) 166–168

    MeSH term(s) Humans ; Deep Brain Stimulation ; Subthalamic Nucleus/physiology ; Parkinson Disease/genetics ; Parkinson Disease/therapy
    Language English
    Publishing date 2022-09-12
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2022.09.006
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  3. Article ; Online: Looking back the importance of genetics in a patient with Parkinson disease and deep brain stimulation.

    Salles, Philippe A / Mata, Ignacio F / Fernandez, Hubert H

    Parkinsonism & related disorders

    2022  Volume 99, Page(s) 96–98

    MeSH term(s) Antiparkinson Agents ; Apomorphine ; Deep Brain Stimulation ; Humans ; Levodopa ; Parkinson Disease/complications ; Parkinson Disease/genetics ; Parkinson Disease/therapy
    Chemical Substances Antiparkinson Agents ; Levodopa (46627O600J) ; Apomorphine (N21FAR7B4S)
    Language English
    Publishing date 2022-04-17
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2022.04.006
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  4. Article: Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions.

    Marsili, Luca / Mata, Ignacio F / Kauffman, Marcelo A

    Frontiers in neurology

    2021  Volume 12, Page(s) 743953

    Language English
    Publishing date 2021-08-23
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2021.743953
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  5. Article: Lack of full sequencing GBA1 studies for patients with Parkinson's disease in Latin America.

    Santos-Lobato, Bruno Lopes / Schumacher-Schuh, Artur F / Mata, Ignacio F

    NPJ Parkinson's disease

    2022  Volume 8, Issue 1, Page(s) 101

    Abstract: Full sequencing of the GBA1 gene in patients with Parkinson's disease provides a wide screening of pathogenic variants, but less developed regions of the world, like Latin America, may have difficulties in performing full sequencing. We performed a ... ...

    Abstract Full sequencing of the GBA1 gene in patients with Parkinson's disease provides a wide screening of pathogenic variants, but less developed regions of the world, like Latin America, may have difficulties in performing full sequencing. We performed a systematic review with meta-analysis to explore the prevalence and the odds ratio of specific GBA1 variants in Parkinson's disease in Latin America. We noted a lack of full sequencing GBA1 studies in Latin America.
    Language English
    Publishing date 2022-08-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2819218-7
    ISSN 2373-8057
    ISSN 2373-8057
    DOI 10.1038/s41531-022-00358-z
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  6. Article ; Online: Driving genotype treatment options down the right path(way).

    Ross, Owen A / Mata, Ignacio F

    Movement disorders : official journal of the Movement Disorder Society

    2019  Volume 34, Issue 12, Page(s) 1811–1813

    MeSH term(s) Automobile Driving ; Genotype
    Language English
    Publishing date 2019-10-25
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S. ; Comment
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.27893
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  7. Article ; Online: Synergism of Anti-CGRP Monoclonal Antibodies and OnabotulinumtoxinA in the Treatment of Chronic Migraine: A Real-World Retrospective Chart Review.

    Salim, Amira / Hennessy, Elise / Sonneborn, Claire / Hogue, Olivia / Biswas, Sudipa / Mays, MaryAnn / Suneja, Aarushi / Ahmed, Zubair / Mata, Ignacio F

    CNS drugs

    2024  

    Abstract: Background: Many patients with chronic migraine do not achieve clinically meaningful improvement in their headache frequency with monotherapy. The burden associated with chronic migraine calls for a multifaceted treatment approach targeting multiple ... ...

    Abstract Background: Many patients with chronic migraine do not achieve clinically meaningful improvement in their headache frequency with monotherapy. The burden associated with chronic migraine calls for a multifaceted treatment approach targeting multiple aspects of migraine pathophysiology.
    Objective: The aim of this study was to evaluate the effect of concurrent anti-calcitonin gene-related peptide (CGRP) monoclonal antibody (mAb) and onabotulinumtoxinA (onabot) treatment on median monthly migraine days (MMD) in patients with chronic migraine, through a retrospective study.
    Methods: The electronic medical records of Cleveland Clinic patients either concurrently (dual therapy) or consecutively (monotherapy) treated with anti-CGRP mAbs and onabot between June 2018 and November 2021 were extracted. Only adult patients (≥ 18 years of age) were included in this study. MMDs for 194 concurrently treated (86.6% female and a median [interquartile range] age of 51 [41-61] years) and 229 consecutively treated (88.2% female and median age of 47 [IQR 39-57] years) patients were examined at baseline, after first therapy of either anti-CGRP mAb or onabot, and following dual therapy for 3 consecutive months. The reduction of MMDs for each treatment group were compared. The same approach was utilized to compare consecutive monotherapy at separate times (n = 229) and dual-therapy groups.
    Results: The initial treatment of the dual-therapy group reduced the median (IQR) MMDs from 30 (30-30) to 15 (12-30) [p < 0.0001]. After initiation of dual therapy, the median MMDs was further decreased from 15 (12-30) to 8 (3-22) [p < 0.0001]. A majority [132/194 (68.0%)] of the dual-therapy patients reported a ≥ 50% reduction in MMD and 90/194 (46.4%) reported a ≥ 75% reduction. For the consecutive monotherapy group, median MMDs changed from a baseline of 30 (25-30) to 15 (8-25) from onabot monotherapy and decreased from 25 (15-30) to 12 (4-25) after anti-CGRP mAb monotherapy. Almost half (113/229 [49.3%] from onabot, and 104/229 [45.4%] from anti-CGRP mAb) of these patients achieved a ≥ 50% reduction in MMDs and a minority (38/229 [16.6%] from onabot, and 45/229 [19.7%] from anti-CGRP mAb) achieved a reduction of ≥ 75%. Additionally, dual therapy showed significant improvement in MMDs compared with monotherapy of either treatment (p < 0.0001).
    Conclusion: Dual therapy of anti-CGRP mAbs and onabot may be more efficacious than monotherapy, possibly due to their synergistic mechanisms of action.
    Language English
    Publishing date 2024-04-07
    Publishing country New Zealand
    Document type Journal Article
    ZDB-ID 1203800-3
    ISSN 1179-1934 ; 1172-7047
    ISSN (online) 1179-1934
    ISSN 1172-7047
    DOI 10.1007/s40263-024-01086-z
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  8. Article ; Online: Should we start integrating genetic data in decision-making on device-aided therapies in Parkinson disease? A point of view.

    Salles, Philippe A / Mata, Ignacio F / Fernandez, Hubert H

    Parkinsonism & related disorders

    2021  Volume 88, Page(s) 51–57

    Abstract: Parkinson disease (PD) is a complex heterogeneous neurodegenerative disorder. Association studies have revealed numerous genetic risk loci and variants, and about 5-10% suffer from a monogenic form. Because the presentation and course of PD is unique to ... ...

    Abstract Parkinson disease (PD) is a complex heterogeneous neurodegenerative disorder. Association studies have revealed numerous genetic risk loci and variants, and about 5-10% suffer from a monogenic form. Because the presentation and course of PD is unique to each patient, personalized symptomatic treatment should ideally be offered to treat the most disabling motor and non-motor symptoms. Indeed, clinical milestones and treatment complications that appear during disease progression are influenced by the genetic imprint. With recent advances in PD, more patients live longer to become eligible for device-aided therapies, such as apomorphine continuous subcutaneous infusion, levodopa duodenal gel infusion, and deep brain stimulation surgery, each with its own inclusion and exclusion criteria, advantages and disadvantages. Because genetic variants influence the expression of particular clinical profiles, factors for better or worse outcomes for device-aided therapies may then be proactively identified. For example, mutations in PRKN, LRRK2 and GBA express phenotypes that favor suitability for different device therapies, although with marked differences in the therapeutic window; whereas multiplications of SNCA express phenotypes that make them less desirable for device therapies.
    MeSH term(s) Clinical Decision-Making ; Deep Brain Stimulation ; Dopamine Agents/administration & dosage ; Humans ; Infusion Pumps ; Infusions, Parenteral ; Infusions, Subcutaneous ; Parkinson Disease/genetics ; Parkinson Disease/therapy
    Chemical Substances Dopamine Agents
    Language English
    Publishing date 2021-05-18
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2021.05.013
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  9. Article ; Online: A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

    Salles, Philippe A / Liao, James / Shuaib, Umar / Mata, Ignacio F / Fernandez, Hubert H

    Journal of Parkinson's disease

    2022  Volume 12, Issue 6, Page(s) 1703–1725

    Abstract: Parkinson's disease (PD) is in some cases predisposed-or-caused by genetic variants, contributing to the expression of different phenotypes. Regardless of etiology, as the disease progresses, motor fluctuations and/or levodopa-induced dyskinesias limit ... ...

    Abstract Parkinson's disease (PD) is in some cases predisposed-or-caused by genetic variants, contributing to the expression of different phenotypes. Regardless of etiology, as the disease progresses, motor fluctuations and/or levodopa-induced dyskinesias limit the benefit of pharmacotherapy. Device-aided therapies are good alternatives in advanced disease, including deep brain stimulation (DBS), levodopa-carbidopa intestinal gel, and continuous subcutaneous infusion of apomorphine. Candidate selection and timing are critical for the success of such therapies. Genetic screening in DBS cohorts has shown a higher proportion of mutation carriers than in general cohorts, suggesting that genetic factors may influence candidacy for advanced therapies. The response of monogenic PD to device therapies is not well established, and the contribution of genetic information to decision-making is still a matter of debate. The limited evidence regarding gene-dependent response to device-aided therapies is reviewed here. An accurate understanding of the adequacy and responses of different mutation carriers to device-aided therapies requires the development of specific studies with long-term monitoring.
    MeSH term(s) Antiparkinson Agents/therapeutic use ; Apomorphine/therapeutic use ; Carbidopa/therapeutic use ; Deep Brain Stimulation ; Humans ; Levodopa/therapeutic use ; Parkinson Disease/drug therapy ; Parkinson Disease/therapy
    Chemical Substances Antiparkinson Agents ; Levodopa (46627O600J) ; Carbidopa (MNX7R8C5VO) ; Apomorphine (N21FAR7B4S)
    Language English
    Publishing date 2022-04-30
    Publishing country Netherlands
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2620609-2
    ISSN 1877-718X ; 1877-7171
    ISSN (online) 1877-718X
    ISSN 1877-7171
    DOI 10.3233/JPD-212986
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  10. Article ; Online: LARGE-PD: Examining the genetics of Parkinson's disease in Latin America.

    Zabetian, Cyrus P / Mata, Ignacio F

    Movement disorders : official journal of the Movement Disorder Society

    2017  Volume 32, Issue 9, Page(s) 1330–1331

    MeSH term(s) Cohort Studies ; Correlation of Data ; Female ; Genetic Association Studies ; Humans ; Latin America/epidemiology ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics ; Male ; Mutation/genetics ; Parkinson Disease/diagnosis ; Parkinson Disease/epidemiology ; Parkinson Disease/genetics
    Chemical Substances Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (EC 2.7.11.1)
    Language English
    Publishing date 2017-06-28
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.27081
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