Citations 2
Attitudes in Patients With Prodromal and Overt α ‐Synucleinopathy Toward Risk Disclosure: A Nationwide Registry
Yılmaz, Rezzak , YILMAZ, Gülce Coşku , Karadağ, Yeşim Sücüllü, Hoş, Ülkü Dübüş, Kabeloğlu, Vasfiye , Sonkaya, Riza, Genç, Gençer, Yılmaz, Hikmet, Erer, Sevda , Gültekin, Murat , Tokçaer, Ayşe Bora, Ataoğlu, Esra Erkoç, Samancı, Bedia , Gençler, Onur Serdar , Tunçel, Rasim , Pak, Tina, Demirelli, Derya Selçuk , İbiş, Selen Yılmaz, Çöklü, Hilal, Unkun, Rümeysa , Güllü, Gizem , Ciftci, Omer Faruk , Metin, Kübra Mehel , Demiryürek, Bekir Enes , Doğu, Okan , Özer, Feriha , Aksu, Murat , Berktaş, Deniz Tuncel, Karadeniz, Derya, Çokal, Burcu Gökçe , Demir, Aylin Bican, Gençdal, Işıl Yazıcı , Sarıtaş, Ayşegül Şeyma , Ak, Aysin Kısabay, Sahin, Aysenur , Aslan-Kara, Kezban, İsmailoğulları, Sevda , Tezer, F. Irsel, Hanağası, Haşmet, Akbostancı, Muhittin Cenk , Senel, G Benbir, Çakan, Gülce Coşku Yılmaz , Gultekin, Murat , Samanci, Bedia , Altun, Rümeysa Unkun , Güllü, Gizem , Çakmaklı, Gül Yalçın , Şahin, Ayşenur , Akbostancı, M Cenk , St Louis, Erik K, Karadağ, Yeşim Sücüllü , Hoş, Ülkü Dübüş , Acarer, Ahmet , Sonkaya, Ali Rıza , Genç, Gençer , Gündüz, Ayşegül , Koçer, Bilge , Yılmaz, Hikmet , Tokçaer, Ayşe Bora , Şahin, Erdi , Baydemir, Recep , Bılgıç, Başar , Akyıldız, Utku Oğan , Karadeniz, Derya , Demir, Aylin Bican , Aslan, Kezban , Tezer, F. İrsel, Hanağası, Haşmet , Louis, Erik K. St.
Movement Disorders Clinical Practice | July 23, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Background Identification of individuals at increased risk for synucleinopathies is becoming more feasible with advances in biomarkers. However, the ethical and practical aspects of communicating disease risk remain unresolved, particularly across diagnostic groups and cultural contexts. Objectives We aimed to evaluate attitudes toward disclosure of future synucleinopathy risk among individuals with isolated/idiopathic REM sleep behavior disorder (iRBD), as well as in individuals who developed Parkinson's disease (PD), or multiple system atrophy (MSA), in a large non‐Western registry. Methods This nationwide survey study included participants from 28 movement disorders and sleep centers across Türkiye. Questionnaires assessing attitudes toward risk disclosure, additional testing, and clinical trial participation were administered face‐to‐face. Responses were analyzed using contingency tables and regression models. Results are reported following the Consensus‐Based Checklist for Reporting of Survey Studies (CROSS) guideline. Results Among 1385 participants (1039 PD, 107 MSA, 239 iRBD), individuals with iRBD showed the highest support for risk disclosure (88.3%), exceeding PD (64.4%) and MSA (51.9%). Approval declined modestly (3–8%) when framed within the absence of disease‐modifying treatment. iRBD participants were more willing for additional testing but less willing to join clinical trials (31.8%) than PD (45.3%) or MSA (48%). MSA patients expressed the greatest concern about psychological impact. Male sex had more favorable views on disclosure and trial participation, while younger and better‐educated participants favored additional testing. Conclusions Attitudes toward risk disclosure differ markedly across the synucleinopathy spectrum and demographic characteristics. Culturally informed and diagnosis‐specific disclosure strategies will be essential for trial recruitment and patient‐centered care.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Vollstedt, Eva‐Juliane , Schaake, Susen , Lohmann, Katja , Lesage, Suzanne , Tesson, Christelle , Wurster, Isabel , Hentati, F., Marder, Karen, Waters, Cheryl , Fahn, Stanley, Brüggemann, Norbert , Tolosa, Eduardo , Garrido, Alícia , Annesi, Grazia , Bozi, Maria , Ferreira, Joaquim J. , Guedes, Leonor Correia , Petrucci, Simona , Clark, Lorraine N. , Abramycheva, Natalya, Menéndez‐González, Manuel , Maestre, S. Jesús, Gómez‐Garre, Pilar , Mir, Pablo , Ran, Caroline , Kuo, Ming‐Che , Ross, Owen A. , Williams‐Gray, Caroline H. , Camacho, Marta , Cornejo‐Olivas, Mario , Torres-Ramírez, Luis , Wu, Yih‐Ru , Morgadinho, Ana , Berg, Daniela , Kuhlenbäumer, Gregor , Kühn, Andrea A. , Borngräber, Friederike , Michele, Giuseppe De , Rosa, Anna De , Zimprich, Alexander , Puschmann, Andreas , Mellick, George D. , Chase, Bruce A. , Markopoulou, Katerina , Satake, Wataru , Rossi, Malco , Lynch, Timothy , Olszewska, Diana A. , Lim, Shen‐Yang , Ahmad‐Annuar, Azlina , Tan, Ai Huey , Hanağası, Haşmet , Koziorowski, Dariusz , Ertan, Sibel , Genç, Gençer , Saunders‐Pullman, Rachel , Warrenburg, Bart van de, Bressman, Susan , Toft, Mathias , Appel‐Cresswell, Silke , Boon, Agnita J.W. , Krüger, Rejko , Sammler, Esther , Tumas, Vítor , Zhang, Baorong , Garraux, Gaëtan , Kim, Yun Joong , Winkelmann, Juliane , Sue, Carolyn M. , Tan, Eng‐King , Kostić, Vladimir , Arkadir, David , Martikainen, Mika H. , Brighina, Laura , Suchowersky, Oksana , Rieß, Olaf , Das, Parimal, Mollenhauer, Brit , Gatto, Emilia , Petersen, Maria Skaalum , Aasly, Jan , Aasly, Anna, Farrer, Matthew J. , Brockmann, Kathrin , Klein, Christine , Group, the MJFF Global Genetic Parkinson's Disease Study, Bardien, Soraya , Barrett, Matthew J. , Januário, Cristina , Sousa, Mário , Soto‐Beasley, Alexandra I. , May, Patrick , Mirelman, Anat , Brüggemann, Norbert , Borsche, Max , Tolosa, Eduardo , Ferreira, Joaquim J , Alvarez, Victoria , Mir, Pablo , Kuo, Ming-Che , Ross, Owen A , Nishioka, Kenya , Williams-Gray, Caroline H , Camacho, Marta , Cornejo-Olivas, Mario , Wu, Yih-Ru , Termsarasab, Pichet , Borngräber, Friederike , Zimprich, Alexander , Gambardella, Stefano , Chase, Bruce , Olszewska, Diana A , Tan, Ai Huey , Barkhuizen, Melinda , Appel-Cresswell, Silke , Skorvanek, Matej , Sammler, Esther M , Zhang, Baorong , Chung, Sun Ju , Puschmann, Andreas , Januário, Cristina , Klein, Christine , Bardien, Soraya , Toft, Mathias , Koziorowski, Dariusz , May, Patrick , Beasley, Alexandra I , Barrett, Matthew J , Sue, Carolyn M , Kühn, Andrea A , Padmanabhan, Shalini , Brice, Alexis , Vidailhet, Marie , Giladi, Nir , Kasten, Meike , Borsche, Max , Foroud, Tatiana , Gagliardi, Monica , Stefanis, Leonidas , Avenali, Micol , Fedotova, E. Yu. , Álvarez, Victoria , Belin, Andrea Carmine , Lin, Chin‐Hsien , Crosiers, David , Wszołek, Zbigniew K. , Jankovic, Joseph J. , Funayama, Manabu , Clarimón, Jordi , Lee‐Chen, Guey‐Jen , Pulkes, Teeratorn , Dorszewska, Jolanta , Carr, Jonathan , Ferese, Rosangela , Toda, Tatsushi , Merello, Marcelo , Al-Mubarak, Bashayer R , Aguiar, Patrícia de Carvalho , Pimentel, Márcia Mattos Gonçalves , Warrenburg, Bart P.C. van de , Lang, Anthony E. , Damásio, Joana , Klivènyi, Péter , Borges, Vanderci , Hertz, Jens Michael , Spitz, Mariana , Hattori, Nobutaka , Wu, Ruey‐Meei , Illarioshkin, Sergey Nikolaevich , Valente, Enza Maria , Alcalay, Roy N. , Thaler, Avner , Corvol, Jean‐Christophe , Group, the MJFF Global Genetic Parkinson's Disease Study
Movement Disorders | January 24, 2023 | Volume: 38 | Issue: 2 | Pages: 286-303
AbstractBackgroundAs gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial‐ready cohorts is limited.ObjectiveThe objectives are to (1) establish an international cohort of affected and unaffected individuals with PD‐linked variants; (2) provide harmonized and quality‐controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD.MethodsWe conducted a worldwide, systematic online survey to collect individual‐level data on individuals with PD‐linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ‐1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed.ResultsWe collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ‐1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published.ConclusionsWithin the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD‐linked variants; (2) provide harmonized and quality‐controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene‐targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.