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6. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

Author

Vollstedt, Eva-Juliane, primary, Madoev, Harutyun, additional, Aasly, Anna, additional, Ahmad-Annuar, Azlina, additional, Al-Mubarak, Bashayer, additional, Alcalay, Roy N., additional, Alvarez, Victoria, additional, Amorin, Ignacio, additional, Annesi, Grazia, additional, Arkadir, David, additional, Bardien, Soraya, additional, Barker, Roger A., additional, Barkhuizen, Melinda, additional, Basak, A. Nazli, additional, Bonifati, Vincenzo, additional, Boon, Agnita, additional, Brighina, Laura, additional, Brockmann, Kathrin, additional, Carmine Belin, Andrea, additional, Carr, Jonathan, additional, Clarimon, Jordi, additional, Cornejo-Olivas, Mario, additional, Correia Guedes, Leonor, additional, Corvol, Jean-Christophe, additional, Crosiers, David, additional, Damásio, Joana, additional, Das, Parimal, additional, de Carvalho Aguiar, Patricia, additional, De Rosa, Anna, additional, Dorszewska, Jolanta, additional, Ertan, Sibel, additional, Ferese, Rosangela, additional, Ferreira, Joaquim, additional, Gatto, Emilia, additional, Genç, Gençer, additional, Giladi, Nir, additional, Gómez-Garre, Pilar, additional, Hanagasi, Hasmet, additional, Hattori, Nobutaka, additional, Hentati, Faycal, additional, Hoffman-Zacharska, Dorota, additional, Illarioshkin, Sergey N., additional, Jankovic, Joseph, additional, Jesús, Silvia, additional, Kaasinen, Valtteri, additional, Kievit, Anneke, additional, Klivenyi, Peter, additional, Kostic, Vladimir, additional, Koziorowski, Dariusz, additional, Kühn, Andrea A., additional, Lang, Anthony E., additional, Lim, Shen-Yang, additional, Lin, Chin-Hsien, additional, Lohmann, Katja, additional, Markovic, Vladana, additional, Martikainen, Mika Henrik, additional, Mellick, George, additional, Merello, Marcelo, additional, Milanowski, Lukasz, additional, Mir, Pablo, additional, Öztop-Çakmak, Özgür, additional, Pimentel, Márcia Mattos Gonçalves, additional, Pulkes, Teeratorn, additional, Puschmann, Andreas, additional, Rogaeva, Ekaterina, additional, Sammler, Esther M., additional, Skaalum Petersen, Maria, additional, Skorvanek, Matej, additional, Spitz, Mariana, additional, Suchowersky, Oksana, additional, Tan, Ai Huey, additional, Termsarasab, Pichet, additional, Thaler, Avner, additional, Tumas, Vitor, additional, Valente, Enza Maria, additional, van de Warrenburg, Bart, additional, Williams-Gray, Caroline H., additional, Wu, Ruey-Mei, additional, Zhang, Baorong, additional, Zimprich, Alexander, additional, Solle, Justin, additional, Padmanabhan, Shalini, additional, and Klein, Christine, additional

Published
2023
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7. Dopamine pathway and Parkinson’s risk variants are associated with levodopa-induced dyskinesia

Author

Sosero, Yuri L., primary, Bandres-Ciga, Sara, additional, Ferwerda, Bart, additional, Tocino, Maria T. P., additional, Belloso, Dìaz R., additional, Gómez-Garre, Pilar, additional, Faouzi, Johann, additional, Taba, Pille, additional, Pavelka, Lukas, additional, Marques, Tainà M., additional, Gomes, Clarissa P. C., additional, Kolodkin, Alexey, additional, May, Patrick, additional, Milanowski, Lukasz M, additional, Wszolek, Zbigniew K., additional, Uitti, Ryan J., additional, Heutink, Peter, additional, van Hilten, Jacobus J., additional, Simon, David K., additional, Eberly, Shirley, additional, Alvarez, Ignacio, additional, Krohn, Lynne, additional, Yu, Eric, additional, Freeman, Kathryn, additional, Rudakou, Uladzislau, additional, Ruskey, Jennifer A., additional, Asayesh, Farnaz, additional, Menéndez-Gonzàlez, Manuel, additional, Pastor, Pau, additional, Ross, Owen A., additional, Krüger, Rejko, additional, Corvol, Jean-Christophe, additional, Koks, Sulev, additional, Mir, Pablo, additional, De Bie, Rob M.A., additional, Iwaki, Hirotaka, additional, and Gan-Or, Ziv, additional

Published
2023
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8. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations:Experience from the MJFF Global Genetic Parkinson's Disease Project

Author

Vollstedt, Eva Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N., Alvarez, Victoria, Amorin, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A., Barkhuizen, Melinda, Basak, A. Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, de Carvalho Aguiar, Patricia, De Rosa, Anna, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N., Jankovic, Joseph, Jesús, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A., Lang, Anthony E., Lim, Shen Yang, Lin, Chin Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M., Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, van de Warrenburg, Bart, Williams-Gray, Caroline H., Wu, Ruey Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, Klein, Christine, Vollstedt, Eva Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N., Alvarez, Victoria, Amorin, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A., Barkhuizen, Melinda, Basak, A. Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, de Carvalho Aguiar, Patricia, De Rosa, Anna, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N., Jankovic, Joseph, Jesús, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A., Lang, Anthony E., Lim, Shen Yang, Lin, Chin Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M., Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, van de Warrenburg, Bart, Williams-Gray, Caroline H., Wu, Ruey Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, and Klein, Christine

Abstract

Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genetic risk factor. However, the vast majority of our present data on monogenic PD is based on the investigation of patients of European White ancestry, leaving a large knowledge gap on monogenic PD in underrepresented populations. Gene-targeted therapies are being developed at a fast pace and have started entering clinical trials. In light of these developments, building a global network of centers working on monogenic PD, fostering collaborative research, and establishing a clinical trial-ready cohort is imperative. Based on a systematic review of the English literature on monogenic PD and a successful team science approach, we have built up a network of 59 sites worldwide and have collected information on the availability of data, biomaterials, and facilities. To enable access to this resource and to foster collaboration across centers, as well as between academia and industry, we have developed an interactive map and online tool allowing for a quick overview of available resources, along with an option to filter for specific items of interest. This initiative is currently being merged with the Global Parkinson's Genetics Program (GP2), which will attract additional centers with a focus on underrepresented sites. This growing resource and tool will facilitate collaborative research and impact the development and testing of new therapies for monogenic and potentially for idiopathic PD patients.

Published
2023

9. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project

Author

Michael J. Fox Foundation for Parkinson's Research, Cambridge Biomedical Research Centre, National Institute for Health and Care Research (US), Vollstedt, Eva-Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N., Álvarez, Victoria, Amorín, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A., Barkhuizen, Melinda, Basak, A. Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean-Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, Aguiar, Patricia de Carvalho, Rosa, Anna De, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N., Jankovic, Joseph, Jesús Maestre, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A., Lang, Anthony E., Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M., Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, Warrenburg, Bart van de, Williams-Gray, Caroline H., Wu, Ruey-Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, Klein, Christine, Michael J. Fox Foundation for Parkinson's Research, Cambridge Biomedical Research Centre, National Institute for Health and Care Research (US), Vollstedt, Eva-Juliane, Madoev, Harutyun, Aasly, Anna, Ahmad-Annuar, Azlina, Al-Mubarak, Bashayer, Alcalay, Roy N., Álvarez, Victoria, Amorín, Ignacio, Annesi, Grazia, Arkadir, David, Bardien, Soraya, Barker, Roger A., Barkhuizen, Melinda, Basak, A. Nazli, Bonifati, Vincenzo, Boon, Agnita, Brighina, Laura, Brockmann, Kathrin, Carmine Belin, Andrea, Carr, Jonathan, Clarimon, Jordi, Cornejo-Olivas, Mario, Correia Guedes, Leonor, Corvol, Jean-Christophe, Crosiers, David, Damásio, Joana, Das, Parimal, Aguiar, Patricia de Carvalho, Rosa, Anna De, Dorszewska, Jolanta, Ertan, Sibel, Ferese, Rosangela, Ferreira, Joaquim, Gatto, Emilia, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycal, Hoffman-Zacharska, Dorota, Illarioshkin, Sergey N., Jankovic, Joseph, Jesús Maestre, Silvia, Kaasinen, Valtteri, Kievit, Anneke, Klivenyi, Peter, Kostic, Vladimir, Koziorowski, Dariusz, Kühn, Andrea A., Lang, Anthony E., Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Markovic, Vladana, Martikainen, Mika Henrik, Mellick, George, Merello, Marcelo, Milanowski, Lukasz, Mir, Pablo, Öztop-Çakmak, Özgür, Pimentel, Márcia Mattos Gonçalves, Pulkes, Teeratorn, Puschmann, Andreas, Rogaeva, Ekaterina, Sammler, Esther M., Skaalum Petersen, Maria, Skorvanek, Matej, Spitz, Mariana, Suchowersky, Oksana, Tan, Ai Huey, Termsarasab, Pichet, Thaler, Avner, Tumas, Vitor, Valente, Enza Maria, Warrenburg, Bart van de, Williams-Gray, Caroline H., Wu, Ruey-Mei, Zhang, Baorong, Zimprich, Alexander, Solle, Justin, Padmanabhan, Shalini, and Klein, Christine

Abstract

Parkinson’s disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genetic risk factor. However, the vast majority of our present data on monogenic PD is based on the investigation of patients of European White ancestry, leaving a large knowledge gap on monogenic PD in underrepresented populations. Gene-targeted therapies are being developed at a fast pace and have started entering clinical trials. In light of these developments, building a global network of centers working on monogenic PD, fostering collaborative research, and establishing a clinical trial-ready cohort is imperative. Based on a systematic review of the English literature on monogenic PD and a successful team science approach, we have built up a network of 59 sites worldwide and have collected information on the availability of data, biomaterials, and facilities. To enable access to this resource and to foster collaboration across centers, as well as between academia and industry, we have developed an interactive map and online tool allowing for a quick overview of available resources, along with an option to filter for specific items of interest. This initiative is currently being merged with the Global Parkinson’s Genetics Program (GP2), which will attract additional centers with a focus on underrepresented sites. This growing resource and tool will facilitate collaborative research and impact the development and testing of new therapies for monogenic and potentially for idiopathic PD patients.

Published
2023

10. New single-nucleotide polymorphisms associated with differences in platelet reactivity and their influence on survival in patients with type 2 diabetes treated with acetylsalicylic acid: an observational study

Author

Milanowski, Lukasz, Pordzik, Justyna, Janicki, Piotr K., Kaplon-Cieslicka, Agnieszka, Rosiak, Marek, Peller, Michal, Tyminska, Agata, Ozieranski, Krzysztof, Filipiak, Krzysztof J., Opolski, Grzegorz, Mirowska-Guzel, Dagmara, and Postula, Marek

Published
2017
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11. L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome

Author

Dulski, Jarosław, primary, Cerquera-Cleves, Catalina, additional, Milanowski, Lukasz, additional, Kwiatek-Majkusiak, Jolanta, additional, Koziorowski, Dariusz, additional, Ross, Owen A., additional, Pentela-Nowicka, Jolanta, additional, Sławek, Jarosław, additional, and Wszolek, Zbigniew K., additional

Published
2022
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12. Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis

Author

Milanowski, Lukasz M., primary, Hou, Xu, additional, Bredenberg, Jenny M., additional, Fiesel, Fabienne C., additional, Cocker, Liam T., additional, Soto-Beasley, Alexandra I., additional, Walton, Ronald L., additional, Strongosky, Audrey J., additional, Faroqi, Ayman H., additional, Barcikowska, Maria, additional, Boczarska-Jedynak, Magdalena, additional, Dulski, Jaroslaw, additional, Fedoryshyn, Lyuda, additional, Janik, Piotr, additional, Potulska-Chromik, Anna, additional, Karpinsky, Katherine, additional, Krygowska-Wajs, Anna, additional, Lynch, Tim, additional, Olszewska, Diana A., additional, Opala, Grzegorz, additional, Pulyk, Aleksander, additional, Rektorova, Irena, additional, Sanotsky, Yanosh, additional, Siuda, Joanna, additional, Widlak, Mariusz, additional, Slawek, Jaroslaw, additional, Rudzinska-Bar, Monika, additional, Uitti, Ryan, additional, Figura, Monika, additional, Szlufik, Stanislaw, additional, Rzonca-Niewczas, Sylwia, additional, Podgorska, Elzbieta, additional, McLean, Pamela J., additional, Koziorowski, Dariusz, additional, Ross, Owen A., additional, Hoffman-Zacharska, Dorota, additional, Springer, Wolfdieter, additional, and Wszolek, Zbigniew K., additional

Published
2022
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13. Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe

Author

Milanowski, Łukasz M., Lindemann, Jennifer A., Hoffman-Zacharska, Dorota, Soto-Beasley, Alexandra I., Barcikowska, Maria, Boczarska-Jedynak, Magdalena, Deutschlander, Angela, Kłodowska, Gabriela, Dulski, Jarosław, Fedoryshyn, Lyuda, Friedman, Andrzej, Jamrozik, Zygmunt, Janik, Piotr, Karpinsky, Katherine, Koziorowski, Dariusz, Krygowska-Wajs, Anna, Jasińska-Myga, Barbara, Opala, Grzegorz, Potulska-Chromik, Anna, Pulyk, Aleksander, Rektorova, Irena, Sanotsky, Yanosh, Siuda, Joanna, Sławek, Jarosław, Śmiłowska, Katarzyna, Szczechowski, Lech, Rudzińska-Bar, Monika, Walton, Ronald L., Ross, Owen A., and Wszolek, Zbigniew K.

Published
2021
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15. Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

Author

Dulski, Jarosław, primary, Cerquera‐Cleves, Catalina, additional, Milanowski, Lukasz, additional, Kidd, Alexa, additional, Sitek, Emilia J., additional, Strongosky, Audrey, additional, Vanegas Monroy, Ana María, additional, Dickson, Dennis W., additional, Ross, Owen A., additional, Pentela‐Nowicka, Jolanta, additional, Sławek, Jarosław, additional, and Wszolek, Zbigniew K., additional

Published
2021
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17. Investigating ELOVL7 coding variants in multiple system atrophy

Author

Wernick, Anna I., primary, Walton, Ronald L., additional, Soto-Beasley, Alexandra I., additional, Koga, Shunsuke, additional, Ren, Yingxue, additional, Heckman, Michael G., additional, Milanowski, Lukasz M., additional, Valentino, Rebecca R., additional, Kondru, Naveen, additional, Uitti, Ryan J., additional, Cheshire, William P., additional, Wszolek, Zbigniew K., additional, Dickson, Dennis W., additional, and Ross, Owen A., additional

Published
2021
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18. Early-Onset Parkinson Disease Screening in Patients From Nigeria

Author

Milanowski, Lukasz M., primary, Oshinaike, Olajumoke, additional, Broadway, Benjamin J., additional, Lindemann, Jennifer A., additional, Soto-Beasley, Alexandra I., additional, Walton, Ronald L., additional, Hanna Al-Shaikh, Rana, additional, Strongosky, Audrey J., additional, Fiesel, Fabienne C., additional, Ross, Owen A., additional, Springer, Wolfdieter, additional, Ogun, Shamsideen Abayomi, additional, and Wszolek, Zbigniew K., additional

Published
2021
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19. PARK2, PINK1, and DJ1 in patients with early-onset Parkinson’s disease in four European countries. (2506)

Author

Milanowski, Lukasz, primary, Lindemann, Jennifer, additional, Barcikowska, Maria, additional, Boczarska-Jedynak, Magdalena, additional, Czyzewski, Krzysztof, additional, Deutschlander, Angela, additional, Duda, Gabriela, additional, Fedoryshyn, Lyuda, additional, Friedman, Andrzej, additional, Hoffman-Zacharska, Dorota, additional, Jamrozik, Zygmunt, additional, Karpinsky, Katherine, additional, Koziorowski, Dariusz, additional, Krygowska-Wajs, Anna, additional, Myga, Barbara, additional, Opala, Grzegorz, additional, Pulyk, Aleksander, additional, Rektorova, Irena, additional, Rudzinska-Bar, Monika, additional, Sanotsky, Yanosh, additional, Siuda, Joanna, additional, Slawek, Jaroslaw, additional, Smilowska, Katarzyna, additional, Szczechowski, Lech, additional, Beasley, Alexandra, additional, Ross, Owen, additional, and Wszolek, Zbigniew, additional

Published
2020
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22. New single-nucleotide polymorphisms associated with differences in platelet reactivity and their influence on survival in patients with type 2 diabetes treated with acetylsalicylic acid: an observational study

Author

Milanowski, Lukasz, primary, Pordzik, Justyna, additional, Janicki, Piotr K., additional, Kaplon-Cieslicka, Agnieszka, additional, Rosiak, Marek, additional, Peller, Michal, additional, Tyminska, Agata, additional, Ozieranski, Krzysztof, additional, Filipiak, Krzysztof J., additional, Opolski, Grzegorz, additional, Mirowska-Guzel, Dagmara, additional, and Postula, Marek, additional

Published
2016
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24. Association of frequent genetic variants in platelet activation pathway genes with large-vessel ischemic stroke in Polish population

Author

Postula, Marek, primary, Janicki, Piotr K., additional, Milanowski, Lukasz, additional, Pordzik, Justyna, additional, Eyileten, Ceren, additional, Karlinski, Michal, additional, Wylezol, Pawel, additional, Solarska, Marta, additional, Czlonkowka, Anna, additional, Kurkowska-Jastrzebka, Iwona, additional, Sugino, Shigekazu, additional, Imamura, Yuka, additional, and Mirowska-Guzel, Dagmara, additional

Published
2016
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27. Association of frequent genetic variants in platelet activation pathway genes with large-vessel ischemic stroke in Polish population.

Author

Postula, Marek, Janicki, Piotr K., Milanowski, Lukasz, Pordzik, Justyna, Eyileten, Ceren, Karlinski, Michal, Wylezol, Pawel, Solarska, Marta, Czlonkowka, Anna, Kurkowska-Jastrzebka, Iwona, Sugino, Shigekazu, Imamura, Yuka, and Mirowska-Guzel, Dagmara

Subjects
BLOOD platelet activation, HUMAN genetic variation, STROKE patients, PUBLIC health, DNA analysis
Abstract

Platelets are critically involved in the development of cerebral ischemia. Our study aimed to establish an association between frequent (minor allele frequency (MAF) > 5%) genetic polymorphisms in 84 candidate genetic loci previously linked to platelet reactivity by the use of next-generation sequencing of exons from pooled DNA samples in Polish patients with a history of large-vessel ischemic stroke. Genetic analysis was performed on blood samples obtained from 500 patients (diagnosed with acute non-cardioembolic ischemic stroke with coexisting large-artery atherosclerosis) and age/sex/history of smoking matching 500 controls of Polish origin with high risk of cardiovascular disease. Sequencing of 10 pools (five for each ischemic and control groups) was performed on the Ilumina HiSeq2500 sequencer which generated an average of 36.1 (22.7–45.9 range) million pair-end 101 bp reads and 5.3 (3–7 range) Gbp per pooled sample consisting of 100 subjects. In total, we observed 789 frequent polymorphisms in the sequenced 84 genes (703 of single-nucleotide polymorphism (SNP) type and 86 indels). When the MAF between control and stroke groups was compared, only two intronic polymorphisms (1 SNP and 1 indel) inRGS7(rs127445 36) andANKS1B(rs398098426) genes, respectively, show statistically significant differences, which persisted after individual genotyping of the variants and adjustment for potential confounding factors. From the remaining variants, 35 polymorphisms displayed various degrees of nominal significance (from 0.6.3 × 10−5to 5 × 10−2) and 754 polymorphisms did not show any statistical significance when comparison was evaluated for differences in MAF between the study groups. In conclusion, the results of the study demonstrate statistically significant differences in two frequent intronic genetic variants (inRGS7andANKS1B) that could be associated with the platelet function between ischemic stroke patients with coexisting large-vessel atherosclerosis and control patients having high vascular risk. [ABSTRACT FROM AUTHOR]

Published
2017
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28. Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa‐Induced Dyskinesia.

Author

Sosero, Yuri L., Bandres‐Ciga, Sara, Ferwerda, Bart, Tocino, Maria T.P., Belloso, Dìaz R., Gómez‐Garre, Pilar, Faouzi, Johann, Taba, Pille, Pavelka, Lukas, Marques, Tainà M., Gomes, Clarissa P.C., Kolodkin, Alexey, May, Patrick, Milanowski, Lukasz M., Wszolek, Zbigniew K., Uitti, Ryan J., Heutink, Peter, Hilten, Jacobus J., Simon, David K., and Eberly, Shirley

Subjects
*PARKINSON'S disease, *MOVEMENT disorders, *DARDARIN, *GENETIC variation, *ODDS ratio, *DYSKINESIAS
Abstract

Background Objectives Methods Results Conclusions Levodopa‐induced dyskinesia (LID) is a common adverse effect of levodopa, one of the main therapeutics used to treat the motor symptoms of Parkinson's disease (PD). Previous evidence suggests a connection between LID and a disruption of the dopaminergic system as well as genes implicated in PD, including GBA1 and LRRK2.Our goal was to investigate the effects of genetic variants on risk and time to LID.We performed a genome‐wide association study (GWAS) and analyses focused on GBA1 and LRRK2 variants. We also calculated polygenic risk scores (PRS) including risk variants for PD and variants in genes involved in the dopaminergic transmission pathway. To test the influence of genetics on LID risk we used logistic regression, and to examine its impact on time to LID we performed Cox regression including 1612 PD patients with and 3175 without LID.We found that GBA1 variants were associated with LID risk (odds ratio [OR] = 1.65; 95% confidence interval [CI], 1.21–2.26; P = 0.0017) and LRRK2 variants with reduced time to LID onset (hazard ratio [HR] = 1.42; 95% CI, 1.09–1.84; P = 0.0098). The fourth quartile of the PD PRS was associated with increased LID risk (ORfourth_quartile = 1.27; 95% CI, 1.03–1.56; P = 0.0210). The third and fourth dopamine pathway PRS quartiles were associated with a reduced time to development of LID (HRthird_quartile = 1.38; 95% CI, 1.07–1.79; P = 0.0128; HRfourth_quartile = 1.38; 95% CI = 1.06–1.78; P = 0.0147).This study suggests that variants implicated in PD and in the dopaminergic transmission pathway play a role in the risk/time to develop LID. Further studies will be necessary to examine how these findings can inform clinical care. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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29. Dopamine pathway and Parkinson's risk variants are associated with levodopa-induced dyskinesia.

Author

Sosero YL, Bandres-Ciga S, Ferwerda B, Tocino MTP, Belloso DR, Gómez-Garre P, Faouzi J, Taba P, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten JJ, Simon DK, Eberly S, Alvarez I, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menéndez-Gonzàlez M, Pastor P, Ross OA, Krüger R, Corvol JC, Koks S, Mir P, De Bie RMA, Iwaki H, and Gan-Or Z

Abstract

Background: Levodopa-induced dyskinesia (LID) is a common adverse effect of levodopa, one of the main therapeutics used to treat the motor symptoms of Parkinson's disease (PD). Previous evidence suggests a connection between LID and a disruption of the dopaminergic system as well as genes implicated in PD, including GBA1 and LRRK2 ., Objectives: To investigate the effects of genetic variants on risk and time to LID., Methods: We performed a genome-wide association study (GWAS) and analyses focused on GBA1 and LRRK2 variants. We also calculated polygenic risk scores including risk variants for PD and variants in genes involved in the dopaminergic transmission pathway. To test the influence of genetics on LID risk we used logistic regression, and to examine its impact on time to LID we performed Cox regression including 1,612 PD patients with and 3,175 without LID., Results: We found that GBA1 variants were associated with LID risk (OR=1.65, 95% CI=1.21-2.26, p=0.0017) and LRRK2 variants with reduced time to LID onset (HR=1.42, 95% CI=1.09-1.84, p=0.0098). The fourth quartile of the PD PRS was associated with increased LID risk (OR fourth_quartile =1.27, 95% CI=1.03-1.56, p =0.0210). The third and fourth dopamine pathway PRS quartiles were associated with a reduced time to development of LID (HR third_quartile =1.38, 95% CI=1.07-1.79, p =0.0128; HR fourth_quartile =1.38, 95% CI=1.06-1.78, p =0.0147)., Conclusions: This study suggests that variants implicated in PD and in the dopaminergic transmission pathway play a role in the risk/time to develop LID. Further studies will be necessary to examine how these findings can inform clinical care., Competing Interests: ZGO has received consulting fees from Lysosomal Therapeutics Inc., Idorsia, Prevail Therapeutics, Denali, Ono Therapeutics, Neuron23, Handl Therapeutics, UBC, Bial Biotech Inc., Bial, Deerfield, Guidepoint, Lighthouse and VanquaBio. None of these companies were involved in any parts of preparing, drafting and publishing this study. ZKW is partially supported by the NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, the gifts from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206) and Vigil Neuroscience, Inc. (VGL101-01.002, VGL101-01.201, PET tracer development protocol, Cfthsf1r biomarker and repository project, and ultra-high field MRI in the diagnosis and management of CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia) projects/grants. He serves as Co-PI of the Mayo Clinic APDA Center for Advanced Research and as an external advisory board member for the Vigil Neuroscience, Inc., and as a consultant on neurodegenerative medical research for Eli Lilli & Company.

Published
2023
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30. [Psychogenic tics: clinical characteristics and prevalence].

Author

Janik P, Milanowski L, and Szejko N

Subjects
Adolescent, Adult, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Poland epidemiology, Prevalence, Tics epidemiology, Young Adult, Severity of Illness Index, Tics classification, Tics diagnosis, Tourette Syndrome epidemiology
Abstract

Aim: Clinical characteristics and the prevalence of psychogenic tics (PT) METHODS: 268 consecutively examined patients aged 4 to 54 years (221 men, 47 females; 134 children, 134 adults) with tic phenotype: Gilles de la Tourette syndrome (GTS, n = 255), chronic motor tics (n = 6), chronic vocal tics (n= 1), transient tics (n = 1), tics unclassified (n = 2), PT (n= 5) were analyzed. The diagnosis of tic disorders was made on the DSM-IV-TR criteria and mental disorders by psychiatrists., Results: PT were found in 5 patients (1.9%), aged 17 to 51 years, four men and one woman. The phenotype included vocalizations and complex movements. In none of the patients simple motor facial tics, inability to tic suppress, unchanging clinical pattern, peak severity from the beginning of the disease, lack of concern about the disease were present. The absence of premonitory urges, regression in unexpected positions, and the presence of atypical for GTS mental disorders were found in two persons. PT occurred in three persons in whom organic tics were present in childhood. Pharmacological treatment and psychotherapy were unsuccessful. In two persons spontaneous resolution occurred, in two patients the tics persist, in one person the course of PT is unknown., Conclusions: PT are rare and may occur in patients with organic tics. The most typical features of PT are: early onset in adulthood, lack of simple motor tics, inability to tic suppress. The diagnosis is established if a few atypical symptoms for organic tics occur.

Published
2014

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