Towards a Global View of Parkinson's Disease Genetics

被引:7
作者
Khani, Marzieh [2 ,3 ]
Cerquera-Cleves, Catalina [4 ,5 ]
Kekenadze, Mariam [6 ,7 ]
Crea, Peter Wild [2 ,3 ]
Singleton, Andrew B. [2 ,3 ]
Bandres-Ciga, Sara [1 ,2 ,3 ]
机构
[1] NIA, NIH, Ctr Alzheimers Dis & Related Dementias CARD, 9000 Rockville Pike,NIH Bldg T44, Bethesda, MD 20892 USA
[2] NIA, Ctr Alzheimers & Related Dementias CARD, Bethesda, MD USA
[3] NINDS, NIH, Bethesda, MD USA
[4] Pontificia Univ Javeriana, San Ignacio Hosp, Neurol Unit, Bogota, Colombia
[5] Laval Univ, CHU Quebec Res Ctr, Axe Neurosci, Quebec City, PQ, Canada
[6] Tbilisi State Med Univ, Tbilisi, Georgia
[7] UCL, Queen Sq Inst Neurol, London, England
基金
美国国家卫生研究院;
关键词
ALPHA-SYNUCLEIN; LRRK2; G2019S; GLUCOCEREBROSIDASE MUTATIONS; ASHKENAZI JEWS; PENETRANCE; RISK; PHENOTYPE; FREQUENCY; VPS35; DUPLICATION;
D O I
10.1002/ana.26905
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Parkinson's disease (PD) is a global health challenge, yet historically studies of PD have taken place predominantly in European populations. Recent genetics research conducted in non-European populations has revealed novel population-specific genetic loci linked to PD risk, highlighting the importance of studying PD globally. These insights have broadened our understanding of PD etiology, which is crucial for developing disease-modifying interventions. This review comprehensively explores the global genetic landscape of PD, emphasizing the scientific rationale for studying underrepresented populations. It underscores challenges, such as genotype-phenotype heterogeneity and inclusion difficulties for non-European participants, emphasizing the ongoing need for diverse and inclusive research in PD. ANN NEUROL 2024
引用
收藏
页码:831 / 842
页数:12
相关论文
共 125 条
[1]   Clinical features of LRRK2-associated Parkinson's disease in Central Norway [J].
Aasly, JO ;
Toft, M ;
Fernandez-Mata, I ;
Kachergus, J ;
Hulihan, M ;
White, LR ;
Farrer, M .
ANNALS OF NEUROLOGY, 2005, 57 (05) :762-765
[2]  
Accelerating Medicines Partnership (AMP), National Institutes of Health (NIH)
[3]   Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations [J].
Alcalay, Roy N. ;
Levy, Oren A. ;
Waters, Cheryl C. ;
Fahn, Stanley ;
Ford, Blair ;
Kuo, Sheng-Han ;
Mazzoni, Pietro ;
Pauciulo, Michael W. ;
Nichols, William C. ;
Gan-Or, Ziv ;
Rouleau, Guy A. ;
Chung, Wendy K. ;
Wolf, Pavlina ;
Oliva, Petra ;
Keutzer, Joan ;
Marder, Karen ;
Zhang, Xiaokui .
BRAIN, 2015, 138 :2648-2658
[4]   Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease [J].
Alcalay, Roy N. ;
Mejia-Santana, Helen ;
Mirelman, Anat ;
Saunders-Pullman, Rachel ;
Raymond, Deborah ;
Palmese, Christina ;
Caccappolo, Elise ;
Ozelius, Laurie ;
Orr-Urtreger, Avi ;
Clark, Lorraine ;
Giladi, Nir ;
Bressman, Susan ;
Marder, Karen .
PARKINSONISM & RELATED DISORDERS, 2015, 21 (02) :106-110
[5]   Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease and GBA Heterozygotes [J].
Alcalay, Roy N. ;
Dinur, Tama ;
Quinn, Timothy ;
Sakanaka, Karina ;
Levy, Oren ;
Waters, Cheryl ;
Fahn, Stanley ;
Dorovski, Tsvyatko ;
Chung, Wendy K. ;
Pauciulo, Michael ;
Nichols, William ;
Rana, Huma Q. ;
Balwani, Manisha ;
Bier, Louise ;
Elstein, Deborah ;
Zimran, Ari .
JAMA NEUROLOGY, 2014, 71 (06) :752-757
[6]   Parkinson Disease Phenotype in Ashkenazi Jews With and Without LRRK2 G2019S Mutations [J].
Alcalay, Roy N. ;
Mirelman, Anat ;
Saunders-Pullman, Rachel ;
Tang, Ming-X ;
Mejia Santana, Helen ;
Raymond, Deborah ;
Roos, Ernest ;
Orbe-Reilly, Martha ;
Gurevich, Tanya ;
Bar Shira, Anat ;
Weisz, Mali Gana ;
Yasinovsky, Kira ;
Zalis, Maayan ;
Thaler, Avner ;
Deik, Andres ;
Barrett, Matthew James ;
Cabassa, Jose ;
Groves, Mark ;
Hunt, Ann L. ;
Lubarr, Naomi ;
San Luciano, Marta ;
Miravite, Joan ;
Palmese, Christina ;
Sachdev, Rivka ;
Sarva, Harini ;
Severt, Lawrence ;
Shanker, Vicki ;
Swan, Matthew Carrington ;
Soto-Valencia, Jeannie ;
Johannes, Brooke ;
Ortega, Robert ;
Fahn, Stanley ;
Cote, Lucien ;
Waters, Cheryl ;
Mazzoni, Pietro ;
Ford, Blair ;
Louis, Elan ;
Levy, Oren ;
Rosado, Llency ;
Ruiz, Diana ;
Dorovski, Tsvyatko ;
Pauciulo, Michael ;
Nichols, William ;
Orr-Urtreger, Avi ;
Ozelius, Laurie ;
Clark, Lorraine ;
Giladi, Nir ;
Bressman, Susan ;
Marder, Karen S. .
MOVEMENT DISORDERS, 2013, 28 (14) :1966-1971
[7]  
Alcalay RN, 2010, ARCH NEUROL-CHICAGO, V67, P1116, DOI 10.1001/archneurol.2010.194
[8]   VPS35 mutation in Japanese patients with typical Parkinson's disease [J].
Ando, Maya ;
Funayama, Manabu ;
Li, Yuanzhe ;
Kashihara, Kenichi ;
Murakami, Yoshitake ;
Ishizu, Nobutaka ;
Toyoda, Chizuko ;
Noguchi, Katsuhiko ;
Hashimoto, Takashi ;
Nakano, Naoki ;
Sasaki, Ryogen ;
Kokubo, Yasumasa ;
Kuzuhara, Shigeki ;
Ogaki, Kotaro ;
Yamashita, Chikara ;
Yoshino, Hiroyo ;
Hatano, Taku ;
Tomiyama, Hiroyuki ;
Hattori, Nobutaka .
MOVEMENT DISORDERS, 2012, 27 (11) :1413-1417
[9]   The Genetic Drivers of Juvenile, Young, and Early-Onset Parkinson's Disease in India [J].
Andrews, Shan V. ;
Kukkle, Prashanth L. ;
Menon, Ramesh ;
Geetha, Thenral S. ;
Goyal, Vinay ;
Kandadai, Rukmini Mridula ;
Kumar, Hrishikesh ;
Borgohain, Rupam ;
Mukherjee, Adreesh ;
Wadia, Pettarusp M. ;
Yadav, Ravi ;
Desai, Soaham ;
Kumar, Niraj ;
Joshi, Deepika ;
Murugan, Sakthivel ;
Biswas, Atanu ;
Pal, Pramod K. ;
Oliver, Merina ;
Nair, Sandhya ;
Kayalvizhi, Anbu ;
Samson, Praveena L. ;
Deshmukh, Manjari ;
Bassi, Akshi ;
Sandeep, Charugulla ;
Mandloi, Nitin ;
Davis, Oliver B. ;
Roberts, Melissa A. ;
Leto, Dara E. ;
Henry, Anastasia G. ;
Di Paolo, Gilbert ;
Muthane, Uday ;
Das, Shymal K. ;
Peterson, Andrew S. ;
Sandmann, Thomas ;
Gupta, Ravi ;
Ramprasad, Vedam L. .
MOVEMENT DISORDERS, 2024, 39 (02) :339-349
[10]   Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers [J].
Anheim, M. ;
Elbaz, A. ;
Lesage, S. ;
Durr, A. ;
Condroyer, C. ;
Viallet, F. ;
Pollak, P. ;
Bonaiti, B. ;
Bonaiti-Pellie, C. ;
Brice, A. .
NEUROLOGY, 2012, 78 (06) :417-420