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1. Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Author

Wang, Hui, Chang, Timothy S, Dombroski, Beth A, Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Kaat, Laura Donker, Van Swieten, John C, Dopper, Elise, Ghetti, Bernardino F, Newell, Kathy L, Troakes, Claire, de Yébenes, Justo G, Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H, Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G, Serrano, Geidy E, Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A, Galasko, Douglas, Boxer, Adam L, Miller, Bruce L, Seeley, Willian W, Van Deerlin, Vivanna M, Lee, Edward B, White, Charles L, Morris, Huw, de Silva, Rohan, Crary, John F, Goate, Alison M, Friedman, Jeffrey S, Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C, Wang, Li-San, Dalgard, Clifton, Dickson, Dennis W, Höglinger, Günter U, Schellenberg, Gerard D, Geschwind, Daniel H, and Lee, Wan-Ping

Subjects
Biological Sciences, Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Acquired Cognitive Impairment, Frontotemporal Dementia (FTD), Rare Diseases, Neurosciences, Dementia, Human Genome, Brain Disorders, Biotechnology, Aging, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease, 2.1 Biological and endogenous factors, Neurological, Progressive Supranuclear Palsy, Whole-Genome Sequencing, Genome-Wide Association Study, Structural Variants, Apolipoprotein E, P. S. P. genetics study group, Humans, Supranuclear Palsy, Progressive, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Aged, Aged, 80 and over, Middle Aged, Female, Male, Whole Genome Sequencing, Clinical Sciences, Neurology & Neurosurgery, Biochemistry and cell biology
Abstract

BackgroundProgressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were based on genotype array, therefore, were inadequate for the analysis of rare variants as well as larger mutations, such as small insertions/deletions (indels) and structural variants (SVs).MethodIn this study, we performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), indels, and SVs, in a cohort of 1,718 cases and 2,944 controls of European ancestry. Of the 1,718 PSP individuals, 1,441 were autopsy-confirmed and 277 were clinically diagnosed.ResultsOur analysis of common SNVs and indels confirmed known genetic loci at MAPT, MOBP, STX6, SLCO1A2, DUSP10, and SP1, and further uncovered novel signals in APOE, FCHO1/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1. Notably, in contrast to Alzheimer's disease (AD), we observed the APOE ε2 allele to be the risk allele in PSP. Analysis of rare SNVs and indels identified significant association in ZNF592 and further gene network analysis identified a module of neuronal genes dysregulated in PSP. Moreover, seven common SVs associated with PSP were observed in the H1/H2 haplotype region (17q21.31) and other loci, including IGH, PCMT1, CYP2A13, and SMCP. In the H1/H2 haplotype region, there is a burden of rare deletions and duplications (P = 6.73 × 10-3) in PSP.ConclusionsThrough WGS, we significantly enhanced our understanding of the genetic basis of PSP, providing new targets for exploring disease mechanisms and therapeutic interventions.

Published
2024

3. The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy

Author

Wenning, Gregor K, Stankovic, Iva, Vignatelli, Luca, Fanciulli, Alessandra, Calandra‐Buonaura, Giovanna, Seppi, Klaus, Palma, Jose‐Alberto, Meissner, Wassilios G, Krismer, Florian, Berg, Daniela, Cortelli, Pietro, Freeman, Roy, Halliday, Glenda, Höglinger, Günter, Lang, Anthony, Ling, Helen, Litvan, Irene, Low, Phillip, Miki, Yasuo, Panicker, Jalesh, Pellecchia, Maria Teresa, Quinn, Niall, Sakakibara, Ryuji, Stamelou, Maria, Tolosa, Eduardo, Tsuji, Shoji, Warner, Tom, Poewe, Werner, and Kaufmann, Horacio

Subjects
Neurosciences, Rare Diseases, Prevention, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Brain, Consensus, Humans, Magnetic Resonance Imaging, Multiple System Atrophy, Prospective Studies, multiple system atrophy, diagnostic criteria, diagnosis, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

BackgroundThe second consensus criteria for the diagnosis of multiple system atrophy (MSA) are widely recognized as the reference standard for clinical research, but lack sensitivity to diagnose the disease at early stages.ObjectiveTo develop novel Movement Disorder Society (MDS) criteria for MSA diagnosis using an evidence-based and consensus-based methodology.MethodsWe identified shortcomings of the second consensus criteria for MSA diagnosis and conducted a systematic literature review to answer predefined questions on clinical presentation and diagnostic tools relevant for MSA diagnosis. The criteria were developed and later optimized using two Delphi rounds within the MSA Criteria Revision Task Force, a survey for MDS membership, and a virtual Consensus Conference.ResultsThe criteria for neuropathologically established MSA remain unchanged. For a clinical MSA diagnosis a new category of clinically established MSA is introduced, aiming for maximum specificity with acceptable sensitivity. A category of clinically probable MSA is defined to enhance sensitivity while maintaining specificity. A research category of possible prodromal MSA is designed to capture patients in the earliest stages when symptoms and signs are present, but do not meet the threshold for clinically established or clinically probable MSA. Brain magnetic resonance imaging markers suggestive of MSA are required for the diagnosis of clinically established MSA. The number of research biomarkers that support all clinical diagnostic categories will likely grow.ConclusionsThis set of MDS MSA diagnostic criteria aims at improving the diagnostic accuracy, particularly in early disease stages. It requires validation in a prospective clinical and a clinicopathological study. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

4. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Author

Okubadejo, Njideka, Ojo, Oluwadamilola, Abiodun, Oladunni, Achoru, Charles, Agabi, Osigwe, Agulanna, Uchechi, Akinyemi, Rufus, Ali, Mohammed, Ani-Osheku, Ifeyinwa, Arigbodi, Ohwotemu, Bello, Abiodun, Erameh, Cyril, Farombi, Temitope, Fawale, Michael, Imarhiagbe, Frank, Iwuozo, Emmanuel, Komolafe, Morenikeji, Nwani, Paul, Nwazor, Ernest, Nyandaiti, Yakub, Obiabo, Yahaya, Odeniyi, Olanike, Odiase, Francis, Ojini, Francis, Onwuegbuzie, Gerald, Osaigbovo, Godwin, Osemwegie, Nosakhare, Oshinaike, Olajumoke, Otubogun, Folajimi, Oyakhire, Shyngle, Ozomma, Simon, Samuel, Sarah, Taiwo, Funmilola, Wahab, Kolawole, Zubair, Yusuf, Gams Massi, Daniel, Gueumekane Bila lamou, Eric, Njamnshi Nfor, Leonard, Magnerou, Mélanie Annick, Fogang Fogoum, Yannick, Shalash, Ali, El-FawaI, Hassan, Khedr, Eman, Fawi, Gharib, A. Eltantawi, Mohamed, Salama, Mohamed, El-Jaafary, Shaimaa, Hamed, Sharifa, Tafesse Mengesha, Abenet, Alemayehu Ayele, Biniyam, Melka Oda, Dereje, Zenebe Zewde, Yared, Debebe Gelan, Yohanesse, AkpaIu, Albert, Charway-Felli, Augustina, Stephen Sarfo, Fred, Adjei, Patrick, Obese, Vida, Bocoum, Abdoulaye, Koita, Abdou, Oumar Guinto, Cheick, Coulibaly, Toumany, Maiga, Youssoufa, Kone, Zaynab, Bell, Abiodun, Adebowale, Akintunde A., Akpekpe, John, lyagba, Alagoma, Wulgo, Ali Mohammed, Arabambi, Babawale, Agu, Christian, Dike, Franklin, Ishola, Ismail, Abiodun, Kehinde, Ekenze, Oluchi, Agabi Osigwe, Paul, Balarabe, Salisu, Abubakar, Sani, Williams, Uduak, Fall, Maouly, Mamadou Diop, Alassane, Hilaire Dominique, Ewodo Touna, Mochan, Andre, Modi, Girish, Dindayal, Saiesha, Ali Awadelkareem, Eman, Elsayed, Inas, Dahawi, Maha, Awadelkareem, Mosab Ali, Misbah, Sarah, Mushengez, Brighton, Kimambo, Henrika, Msango, Leonard, Adebayo, Philip, OKeng, Kigocha, Diekker, Marieke, URassa, Sarah, Gouider, Riadh, Ben Djebara, Mouna, Gargouri, Amina, Kacem, Imen, Nasri, Amina, Mrabet, Saloua, Sghaier, Ikram, Mkada, Imen, Atadzhanov, Masharip, Chishimba, Lorraine, Rizig, Mie, Jama, Fatumah, Okunoye, Olaitan, Hardy, John, Houlden, Henry, Singleton, Andrew, Nalls, Mike, Shamim, Ejaz, Jonas, Cabell, Williamson, Jared, Hall, Deborah A., Rosenbaum, Marc, Davis, Staci, Dean, Marissa, Cromer, Candace, Smith, Jenna, Ruffrage, Lauren, Richardson, Joseph, Sipma, Rebeka, Xie, Tao, Padmanaban, Manesh, Warren, Natalie, Mercado, Tomas, Disbrow, Elizabeth, Chauppeta, Brian, Thomas-Dean, Fermine, Toms, Jamie, Lofton, Katelyn, Rawls, Ashley, Rizer, Kyle, Black, Nieci, Solle, Justin, O'Grady, Alyssa, Sherer, Todd, Fiske, Brian, Başak, A. Nazlı, Tan, Ai Huey, Noyce, Alastair, Akpalu, Albert, Espay, Alberto, Martínez-Carrasco, Alejandro, Medina, Alex, Zimprich, Alexander, Brice, Alexis, Karimova, Altynay, Hernandez, Alvaro, Illarionova, Anastasia, Quattrone, Andrea, Singleton, Andrew B, Sobering, Andrew K., Vinuela, Angel, Sanyaolu, Arinola, Schumacher-Schuh, Artur F., Kishore, Asha, Ahmad-Annuar, Azlina, Al Mubarak, Bashayer, Tang, Beisha, Pizarro Galleguillos, Benjamin, Jeon, Beomseok, Siddiqi, Bernadette, Casey, Bradford, Mollenhauer, Brit, Carroll, Camille, Rieder, Carlos, Pantazis, Caroline B., Comart, Charisse, Lin, Chin-Hsien, Klein, Christine, Bale, Claire, Shepherd, Claire E, Wegel, Claire, Blauwendraat, Cornelis, Vitale, Dan, Martinez-Ramirez, Daniel, Hall, Deborah, Hernandez, Dena, KP, Divya, Nguyen, Duan, Fon, Edward A., Dadiotis, Efthymios, Riley, Ekemini, Iakovenko, Elena, Stafford, Ellie, Gatto, Emilia M, Valente, Enza Maria, Vollstedt, Eva-Juliane, Faghri, Faraz, Genc, Gencer, Xiromerisiou, Georgia, Hadjigorgiou, Georgios, Hiu-Fai Chan, Germaine, Arboleda, Gonzalo, Kaishibayeva, Gulnaz, Höglinger, Günter, Leonard, Hampton, Madoev, Harutyun, Iwaki, Hirotaka, Chen, Honglei, Wu, Hsiu-Chuan, Shang, Huifang, Morris, Huw R, F. Mata, Ignacio, Keller Sarmiento, Ignacio Juan, Dagklis, Ioannis, Tarnanas, Ioannis, Aasly, Jan O., Hoenicka, Janet, Corvol, Jean-Christophe, Foo, Jia Nee, Guo, Jifeng, Junker, Johanna, Carr, Jonathan, Kim, Jonggeol Jeff, Orozco, Jorge, Jankovic, Joseph, Shulman, Joshua, Hunter, Julie, Solle, Justin C., Murphy, Kaileigh, Nuytemans, Karen, Kieburtz, Karl, Lohmann, Katja, Marek, Kenneth, Mok, Kin Ying, Kumar, Kishore, Levine, Kristin, Chahine, Lana M., Lange, Lara M., Pihlstrøm, Lasse, Screven, Laurel, Stefanis, Leonidas, Shulman, Lisa, Marsili, Luca, Parnetti, Lucilla, Kuhl, Maggie, Funayama, Manabu, Sharma, Manu, Tan, Manuela, Kauffman, Marcelo, Miranda, Marcelo, Bustamante, Maria Leonor, Stamelou, Maria, Periñan Tocino, Maria Teresa, Cornejo-Olivas, Mario, Jimenez del Rio, Marlene, Makarious, Mary B, Koretsky, Mathew, Rodriguez-Violante, Mayela, Ellis, Melina, Avenali, Micol, Rentería, Miguel E., Inca-Martines, Miguel z, Nalls, Mike A., Ibrahim Norlinah, Mohamed, Umair, Muhammad, Ip, Nancy, Louie, Naomi, Cheung, Nelson Yuk-Fai, Mencacci, Niccolò Emanuele, Wood, Nicholas, Williams, Nigel, Hattori, Nobutaka, Abdul Murad, Nor Azian, Ibrahim, Norlinah Mohamed, Monchi, Oury, Öztop Çakmak, Özgür, Öztop Çakmak, Patricio Öztop Çakmak, Lewis, Patrick Alfryn, Pastor, Pau, Reyes-Pérez, Paula, Saffie Awad, Paula, Chana, Pedro, Chan, Phillip, Kung, Pin-Jui, Chan, Piu, Pal, Pramod, Lingappa Kukkle, Prashanth, Ojha, Rajeev, Kaiyrzhanov, Rauan, Krüger, Rejko, Amouri, Rim, Weil, Rimona, Rajan, Roopa, Alcalay, Roy, Wu, Ruey-Meei, Borgohain, Rupam, Sassi, Samia Ben, Khachatryan, Samson, Bandres-Ciga, Sara, El-Sadig, Sarah, Wu, Serena, Groppa, Sergio, Azmin, Shahrul, Lim, Shen-Yang, Ur-Rehman, Shoaib, Ertan, Sibel, Stott, Simon, Jasaitye, Simona, Chowdhury, Sohini, Dumanis, Sonya, Bardien, Soraya, Lubbe, Steven, Koks, Sulev, Dey, Sumit, Foroud, Tatiana, Fon, Ted, Beach, Thomas, Gasser, Thomas, Anderson, Tim, Nguyen, Toan, Schirinzi, Tommaso, Shiraishi, Tomotaka, Pitcher, Toni, Tumas, Vitor, Mohamed, Wael, Kamel, Walaa A., Luo, Wei, Zhou, Xiaopu, Zewde, Yared Z., Song, Yeajin, Wen, Yi, Wu, Yihru, Joong Kim, Yun, Tavadyan, Zaruhi, Fang, Zih-Hua, Ojo, Oluwadamilola Omolara, Crea, Peter Wild, Abiodun, Oladunni Victoria, Levine, Kristin S, Abubakar, Sani Atta, Achoru, Charles Obiora, Adeniji, Olaleye Akinmola, Agabi, Osigwe Paul, Koretsky, Mathew J, Hall, Deborah A, Akinyemi, Rufus Olusola, Ali, Mohammed Wulgo, Shamim, Ejaz A, Padmanaban, Mahesh, Arigbodi, Ohwotemu Michael, Standaert, David G, Bello, Abiodun Hamzat, Dean, Marissa N, Erameh, Cyril Oshomah, Farombi, Temitope Hannah, Fawale, Michael Bimbola, Billingsley, Kimberley J, Imarhiagbe, Frank Aiwansoba, Jerez, Pilar Alvarez, Iwuozo, Emmanuel Uzodinma, Baker, Breeana, Komolafe, Morenikeji Adeyoyin, Malik, Laksh, Nwani, Paul Osemeke, Daida, Kensuke, Nwazor, Ernest Okwundu, Miano-Burkhardt, Abigail, Nyandaiti, Yakub Wilberforce, Obiabo, Yahaya Olugbo, Kluss, Jillian H, Odeniyi, Olanike Adedoyin, Hernandez, Dena G, Odiase, Francis Ehidiamen, Tayebi, Nahid, Ojini, Francis Ibe, Sidranksy, Ellen, Onwuegbuzie, Gerald Awele, D'Souza, Andrea M, Osaigbovo, Godwin Osawaru, Berhe, Bahafta, Reed, Xylena, Oshinaike, Olajumoke Olufemi, Leonard, Hampton L, Otubogun, Folajimi Morenikeji, Alvarado, Chelsea X, Oyakhire, Shyngle Imiewan, Ozomma, Simon Izuchukwu, Samuel, Sarah Chabiri, Taiwo, Funmilola Tolulope, Wahab, Kolawole Wasiu, Zubair, Yusuf Agboola, Kim, Jonggeol Jeffrey, Nalls, Mike A, Heilbron, Karl, Norcliffe-Kaufmann, Lucy, and Okubadejo, Njideka Ulunma

Published
2023
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6. Dietary Inflammatory Index score and prodromal Parkinson's disease incidence: The HELIAD study

Author

Balomenos, Vassilis, Bounou, Lamprini, Charisis, Sokratis, Stamelou, Maria, Ntanasi, Eva, Georgiadi, Kyriaki, Mourtzinos, Ioannis, Tzima, Katerina, Anastasiou, Costas A., Xiromerisiou, Georgia, Maraki, Maria, Yannakoulia, Mary, Kosmidis, Mary H., Dardiotis, Efthimios, Hadjigeorgiou, Georgios, Sakka, Paraskevi, Stefanis, Leonidas, and Scarmeas, Nikolaos

Published
2022
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7. Ethnic Differences in Atypical Parkinsonism—is South Asian PSP Different?

Author

Balint, Bettina, Neo, Shermyn, Magrinelli, Francesca, Mulroy, Eoin, Latorre, Anna, Stamelou, Maria, Morris, Huw R., Batla, Amit, and Bhatia, Kailash P.

Subjects
PROGRESSIVE supranuclear palsy, SYMPTOMS, BEHAVIOR disorders, MEDICAL records, ETHNIC differences
Abstract

Background: Progressive supranuclear palsy (PSP) is a progressive atypical parkinsonian condition that results in severe disability. There are few studies of PSP in patients of non‐white European ancestry. Objectives: We aim to perform deep phenotyping in a South Asian PSP cohort to uncover possible ethnic differences in disease characteristics. Methods: Consecutive PSP patients had their clinical records reviewed for clinical features operationalized in the Movement Disorder Society (MDS)‐PSP diagnostic criteria and relevant investigations, including imaging and genetic tests. Clinical variables were summarized by descriptive statistics and Kaplan–Meier curves were generated for survival analysis. Results: Twenty‐seven patients, comprising Indians (78%), Pakistanis (11%) and Sri Lankans (11%) were included. Mean age of symptom onset was 63.8 ± 7.0 years and 22% of patients had an early age of onset (<60 years). The most common presenting symptom was parkinsonism (56%), followed by cognitive dysfunction (37%), falls (33%) and dysarthria (26%). The predominance types at final review were distributed across PSP‐RS (67%), PSP‐PGF (15%), PSP‐P (15%) and PSP‐F (4%). Atypical clinical features like cerebellar signs (33%), REM‐sleep behavior disorder (RBD) (55%), visual hallucinations (22%), and a family history of parkinsonism (20%) were evident in a proportion of patients. Conclusions: We present a South Asian cohort of PSP patients with a higher than previously reported percentages of early‐onset disease, family history and atypical clinical manifestations. These patients do not fit easily into the PSP phenotypes defined by the current MDS criteria. Dedicated clinicopathological and genetic tests are needed in this population to dissect the pathogenesis of clinically‐defined PSP. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Precision Dopaminergic Treatment in a Cohort of Parkinson’s disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review

Author

Koros, Christos, primary, Simitsi, Athina-Maria, additional, Papagiannakis, Nikolaos, additional, BOUGEA, ANASTASIA, additional, Antonelou, Roubina, additional, Pachi, Ioanna, additional, Sfikas, Evangelos, additional, Stanitsa, Evangelia, additional, Angelopoulou, Efthalia, additional, Constantinides, Vasilios C., additional, Papageorgiou, Sokratis, additional, Potagas, Constantin, additional, Stamelou, Maria, additional, and Stefanis, Leonidas, additional

Published
2024
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9. Precision Dopaminergic Treatment in a Cohort of Parkinson's Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review.

Author

Koros, Christos, Simitsi, Athina-Maria, Papagiannakis, Nikolaos, Bougea, Anastasia, Antonelou, Roubina, Pachi, Ioanna, Sfikas, Evangelos, Stanitsa, Evangelia, Angelopoulou, Efthalia, Constantinides, Vasilios C., Papageorgiou, Sokratis G., Potagas, Constantin, Stamelou, Maria, and Stefanis, Leonidas

Subjects
RECESSIVE genes, PARKINSON'S disease, GENETIC variation, DOPAMINE agonists, DOPA
Abstract

Introduction: Parkinson's disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce. Methods: Demographic and treatment data of a cohort of PD carriers of recessive genes (nine homozygous or compound heterozygous PRKN carriers, four heterozygous PRKN carriers, and three biallelic PINK1 carriers) were evaluated. Results: The average levodopa equivalent daily dose (LEDD) was 806.8 ± 453.5 (range 152–1810) in PRKN carriers and 765 ± 96.6 (range 660–850) in PINK1 carriers. The majority responded to low/moderate doses of levodopa. The response to dopamine agonists (DAs) was often favorable both as initial and longitudinal therapy. In total, 8/13 PRKN and 1/3 PINK1 carriers were treated with amantadine successfully, and this also applied to patients who could not tolerate levodopa or DAs. Conclusions: In the era of personalized treatment, the therapeutic approach in recessive PD gene carriers might differ as compared to idiopathic PD. Lower LEDD doses were efficient even in patients with a very long disease duration, while a few patients were doing well without any levodopa treatment decades after disease initiation. DAs or amantadine could be used as a first and main line treatment regimen if well tolerated. Literature data on therapeutic strategies in carriers of pathogenic mutations in recessive PD genes, including device-aided treatments, will be further discussed. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin‐Related Parkinson's Disease

Author

Papagiannakis, Nikolaos, primary, Liu, Hui, additional, Koros, Christos, additional, Simitsi, Athina‐Maria, additional, Stamelou, Maria, additional, Maniati, Matina, additional, Buena‐Atienza, Elena, additional, Kartanou, Chrysoula, additional, Karadima, Georgia, additional, Makrythanasis, Periklis, additional, Vatsellas, Giannis, additional, Valente, Enza Maria, additional, Gasser, Thomas, additional, and Stefanis, Leonidas, additional

Published
2024
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12. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Author

Rizig, Mie, primary, Bandres-Ciga, Sara, additional, Makarious, Mary B, additional, Ojo, Oluwadamilola Omolara, additional, Crea, Peter Wild, additional, Abiodun, Oladunni Victoria, additional, Levine, Kristin S, additional, Abubakar, Sani Atta, additional, Achoru, Charles Obiora, additional, Vitale, Dan, additional, Adeniji, Olaleye Akinmola, additional, Agabi, Osigwe Paul, additional, Koretsky, Mathew J, additional, Agulanna, Uchechi, additional, Hall, Deborah A, additional, Akinyemi, Rufus Olusola, additional, Xie, Tao, additional, Ali, Mohammed Wulgo, additional, Shamim, Ejaz A, additional, Ani-Osheku, Ifeyinwa, additional, Padmanaban, Mahesh, additional, Arigbodi, Ohwotemu Michael, additional, Standaert, David G, additional, Bello, Abiodun Hamzat, additional, Dean, Marissa N, additional, Erameh, Cyril Oshomah, additional, Elsayed, Inas, additional, Farombi, Temitope Hannah, additional, Okunoye, Olaitan, additional, Fawale, Michael Bimbola, additional, Billingsley, Kimberley J, additional, Imarhiagbe, Frank Aiwansoba, additional, Jerez, Pilar Alvarez, additional, Iwuozo, Emmanuel Uzodinma, additional, Baker, Breeana, additional, Komolafe, Morenikeji Adeyoyin, additional, Malik, Laksh, additional, Nwani, Paul Osemeke, additional, Daida, Kensuke, additional, Nwazor, Ernest Okwundu, additional, Miano-Burkhardt, Abigail, additional, Nyandaiti, Yakub Wilberforce, additional, Fang, Zih-Hua, additional, Obiabo, Yahaya Olugbo, additional, Kluss, Jillian H, additional, Odeniyi, Olanike Adedoyin, additional, Hernandez, Dena G, additional, Odiase, Francis Ehidiamen, additional, Tayebi, Nahid, additional, Ojini, Francis Ibe, additional, Sidranksy, Ellen, additional, Onwuegbuzie, Gerald Awele, additional, D'Souza, Andrea M, additional, Osaigbovo, Godwin Osawaru, additional, Berhe, Bahafta, additional, Osemwegie, Nosakhare, additional, Reed, Xylena, additional, Oshinaike, Olajumoke Olufemi, additional, Leonard, Hampton L, additional, Otubogun, Folajimi Morenikeji, additional, Alvarado, Chelsea X, additional, Oyakhire, Shyngle Imiewan, additional, Ozomma, Simon Izuchukwu, additional, Samuel, Sarah Chabiri, additional, Taiwo, Funmilola Tolulope, additional, Wahab, Kolawole Wasiu, additional, Zubair, Yusuf Agboola, additional, Iwaki, Hirotaka, additional, Kim, Jonggeol Jeffrey, additional, Morris, Huw R, additional, Hardy, John, additional, Nalls, Mike A, additional, Heilbron, Karl, additional, Norcliffe-Kaufmann, Lucy, additional, Blauwendraat, Cornelis, additional, Houlden, Henry, additional, Singleton, Andrew, additional, Okubadejo, Njideka Ulunma, additional, Okubadejo, Njideka, additional, Ojo, Oluwadamilola, additional, Abiodun, Oladunni, additional, Achoru, Charles, additional, Agabi, Osigwe, additional, Akinyemi, Rufus, additional, Ali, Mohammed, additional, Arigbodi, Ohwotemu, additional, Bello, Abiodun, additional, Erameh, Cyril, additional, Farombi, Temitope, additional, Fawale, Michael, additional, Imarhiagbe, Frank, additional, Iwuozo, Emmanuel, additional, Komolafe, Morenikeji, additional, Nwani, Paul, additional, Nwazor, Ernest, additional, Nyandaiti, Yakub, additional, Obiabo, Yahaya, additional, Odeniyi, Olanike, additional, Odiase, Francis, additional, Ojini, Francis, additional, Onwuegbuzie, Gerald, additional, Osaigbovo, Godwin, additional, Oshinaike, Olajumoke, additional, Otubogun, Folajimi, additional, Oyakhire, Shyngle, additional, Ozomma, Simon, additional, Samuel, Sarah, additional, Taiwo, Funmilola, additional, Wahab, Kolawole, additional, Zubair, Yusuf, additional, Gams Massi, Daniel, additional, Gueumekane Bila lamou, Eric, additional, Njamnshi Nfor, Leonard, additional, Magnerou, Mélanie Annick, additional, Fogang Fogoum, Yannick, additional, Shalash, Ali, additional, El-FawaI, Hassan, additional, Khedr, Eman, additional, Fawi, Gharib, additional, A. Eltantawi, Mohamed, additional, Salama, Mohamed, additional, El-Jaafary, Shaimaa, additional, Hamed, Sharifa, additional, Tafesse Mengesha, Abenet, additional, Alemayehu Ayele, Biniyam, additional, Melka Oda, Dereje, additional, Zenebe Zewde, Yared, additional, Debebe Gelan, Yohanesse, additional, AkpaIu, Albert, additional, Charway-Felli, Augustina, additional, Stephen Sarfo, Fred, additional, Adjei, Patrick, additional, Obese, Vida, additional, Bocoum, Abdoulaye, additional, Koita, Abdou, additional, Oumar Guinto, Cheick, additional, Coulibaly, Toumany, additional, Maiga, Youssoufa, additional, Kone, Zaynab, additional, Bell, Abiodun, additional, Adebowale, Akintunde A., additional, Akpekpe, John, additional, lyagba, Alagoma, additional, Wulgo, Ali Mohammed, additional, Arabambi, Babawale, additional, Agu, Christian, additional, Dike, Franklin, additional, Ishola, Ismail, additional, Abiodun, Kehinde, additional, Ekenze, Oluchi, additional, Agabi Osigwe, Paul, additional, Balarabe, Salisu, additional, Abubakar, Sani, additional, Williams, Uduak, additional, Fall, Maouly, additional, Mamadou Diop, Alassane, additional, Hilaire Dominique, Ewodo Touna, additional, Mochan, Andre, additional, Modi, Girish, additional, Dindayal, Saiesha, additional, Ali Awadelkareem, Eman, additional, Dahawi, Maha, additional, Awadelkareem, Mosab Ali, additional, Misbah, Sarah, additional, Mushengez, Brighton, additional, Kimambo, Henrika, additional, Msango, Leonard, additional, Adebayo, Philip, additional, OKeng, Kigocha, additional, Diekker, Marieke, additional, URassa, Sarah, additional, Gouider, Riadh, additional, Ben Djebara, Mouna, additional, Gargouri, Amina, additional, Kacem, Imen, additional, Nasri, Amina, additional, Mrabet, Saloua, additional, Sghaier, Ikram, additional, Mkada, Imen, additional, Atadzhanov, Masharip, additional, Chishimba, Lorraine, additional, Rizig, Mie, additional, Jama, Fatumah, additional, Nalls, Mike, additional, Shamim, Ejaz, additional, Jonas, Cabell, additional, Williamson, Jared, additional, Hall, Deborah A., additional, Rosenbaum, Marc, additional, Davis, Staci, additional, Dean, Marissa, additional, Cromer, Candace, additional, Smith, Jenna, additional, Ruffrage, Lauren, additional, Richardson, Joseph, additional, Sipma, Rebeka, additional, Padmanaban, Manesh, additional, Warren, Natalie, additional, Mercado, Tomas, additional, Disbrow, Elizabeth, additional, Chauppeta, Brian, additional, Thomas-Dean, Fermine, additional, Toms, Jamie, additional, Lofton, Katelyn, additional, Rawls, Ashley, additional, Rizer, Kyle, additional, Black, Nieci, additional, Solle, Justin, additional, O'Grady, Alyssa, additional, Sherer, Todd, additional, Fiske, Brian, additional, Başak, A. Nazlı, additional, Tan, Ai Huey, additional, Noyce, Alastair, additional, Akpalu, Albert, additional, Espay, Alberto, additional, Martínez-Carrasco, Alejandro, additional, Medina, Alex, additional, Zimprich, Alexander, additional, Brice, Alexis, additional, Karimova, Altynay, additional, Hernandez, Alvaro, additional, Illarionova, Anastasia, additional, Quattrone, Andrea, additional, Singleton, Andrew B, additional, Sobering, Andrew K., additional, Vinuela, Angel, additional, Sanyaolu, Arinola, additional, Schumacher-Schuh, Artur F., additional, Kishore, Asha, additional, Ahmad-Annuar, Azlina, additional, Al Mubarak, Bashayer, additional, Tang, Beisha, additional, Pizarro Galleguillos, Benjamin, additional, Jeon, Beomseok, additional, Siddiqi, Bernadette, additional, Casey, Bradford, additional, Mollenhauer, Brit, additional, Carroll, Camille, additional, Rieder, Carlos, additional, Pantazis, Caroline B., additional, Comart, Charisse, additional, Lin, Chin-Hsien, additional, Klein, Christine, additional, Bale, Claire, additional, Shepherd, Claire E, additional, Wegel, Claire, additional, Martinez-Ramirez, Daniel, additional, Hall, Deborah, additional, Hernandez, Dena, additional, KP, Divya, additional, Nguyen, Duan, additional, Fon, Edward A., additional, Dadiotis, Efthymios, additional, Riley, Ekemini, additional, Iakovenko, Elena, additional, Stafford, Ellie, additional, Gatto, Emilia M, additional, Valente, Enza Maria, additional, Vollstedt, Eva-Juliane, additional, Faghri, Faraz, additional, Genc, Gencer, additional, Xiromerisiou, Georgia, additional, Hadjigorgiou, Georgios, additional, Hiu-Fai Chan, Germaine, additional, Arboleda, Gonzalo, additional, Kaishibayeva, Gulnaz, additional, Höglinger, Günter, additional, Leonard, Hampton, additional, Madoev, Harutyun, additional, Chen, Honglei, additional, Wu, Hsiu-Chuan, additional, Shang, Huifang, additional, F. Mata, Ignacio, additional, Keller Sarmiento, Ignacio Juan, additional, Dagklis, Ioannis, additional, Tarnanas, Ioannis, additional, Aasly, Jan O., additional, Hoenicka, Janet, additional, Corvol, Jean-Christophe, additional, Foo, Jia Nee, additional, Guo, Jifeng, additional, Junker, Johanna, additional, Carr, Jonathan, additional, Kim, Jonggeol Jeff, additional, Orozco, Jorge, additional, Jankovic, Joseph, additional, Shulman, Joshua, additional, Hunter, Julie, additional, Solle, Justin C., additional, Murphy, Kaileigh, additional, Nuytemans, Karen, additional, Kieburtz, Karl, additional, Lohmann, Katja, additional, Marek, Kenneth, additional, Mok, Kin Ying, additional, Kumar, Kishore, additional, Levine, Kristin, additional, Chahine, Lana M., additional, Lange, Lara M., additional, Pihlstrøm, Lasse, additional, Screven, Laurel, additional, Stefanis, Leonidas, additional, Shulman, Lisa, additional, Marsili, Luca, additional, Parnetti, Lucilla, additional, Kuhl, Maggie, additional, Funayama, Manabu, additional, Sharma, Manu, additional, Tan, Manuela, additional, Kauffman, Marcelo, additional, Miranda, Marcelo, additional, Bustamante, Maria Leonor, additional, Stamelou, Maria, additional, Periñan Tocino, Maria Teresa, additional, Cornejo-Olivas, Mario, additional, Jimenez del Rio, Marlene, additional, Koretsky, Mathew, additional, Rodriguez-Violante, Mayela, additional, Ellis, Melina, additional, Avenali, Micol, additional, Rentería, Miguel E., additional, Inca-Martines, Miguel z, additional, Nalls, Mike A., additional, Ibrahim Norlinah, Mohamed, additional, Umair, Muhammad, additional, Ip, Nancy, additional, Louie, Naomi, additional, Cheung, Nelson Yuk-Fai, additional, Mencacci, Niccolò Emanuele, additional, Wood, Nicholas, additional, Williams, Nigel, additional, Hattori, Nobutaka, additional, Abdul Murad, Nor Azian, additional, Ibrahim, Norlinah Mohamed, additional, Monchi, Oury, additional, Öztop Çakmak, Özgür, additional, Öztop Çakmak, Patricio Öztop Çakmak, additional, Lewis, Patrick Alfryn, additional, Pastor, Pau, additional, Reyes-Pérez, Paula, additional, Saffie Awad, Paula, additional, Chana, Pedro, additional, Chan, Phillip, additional, Kung, Pin-Jui, additional, Chan, Piu, additional, Pal, Pramod, additional, Lingappa Kukkle, Prashanth, additional, Ojha, Rajeev, additional, Kaiyrzhanov, Rauan, additional, Krüger, Rejko, additional, Amouri, Rim, additional, Weil, Rimona, additional, Rajan, Roopa, additional, Alcalay, Roy, additional, Wu, Ruey-Meei, additional, Borgohain, Rupam, additional, Sassi, Samia Ben, additional, Khachatryan, Samson, additional, El-Sadig, Sarah, additional, Wu, Serena, additional, Groppa, Sergio, additional, Azmin, Shahrul, additional, Lim, Shen-Yang, additional, Ur-Rehman, Shoaib, additional, Ertan, Sibel, additional, Stott, Simon, additional, Jasaitye, Simona, additional, Chowdhury, Sohini, additional, Dumanis, Sonya, additional, Bardien, Soraya, additional, Lubbe, Steven, additional, Koks, Sulev, additional, Dey, Sumit, additional, Foroud, Tatiana, additional, Fon, Ted, additional, Beach, Thomas, additional, Gasser, Thomas, additional, Anderson, Tim, additional, Nguyen, Toan, additional, Schirinzi, Tommaso, additional, Shiraishi, Tomotaka, additional, Pitcher, Toni, additional, Tumas, Vitor, additional, Mohamed, Wael, additional, Kamel, Walaa A., additional, Luo, Wei, additional, Zhou, Xiaopu, additional, Zewde, Yared Z., additional, Song, Yeajin, additional, Wen, Yi, additional, Wu, Yihru, additional, Joong Kim, Yun, additional, and Tavadyan, Zaruhi, additional

Published
2023
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13. Serum Uric Acid as a Putative Biomarker in Prodromal Parkinson’s Disease: Longitudinal Data from the PPMI Study

Author

Koros, Christos, primary, Simitsi, Athina-Maria, additional, Papagiannakis, Nikolaos, additional, Bougea, Anastasia, additional, Prentakis, Andreas, additional, Papadimitriou, Dimitra, additional, Pachi, Ioanna, additional, Beratis, Ion, additional, Stanitsa, Evangelia, additional, Angelopoulou, Efthalia, additional, Antonelou, Roubina, additional, Bregianni, Marianna, additional, Lourentzos, Konstantinos, additional, Papageorgiou, Sokratis G., additional, Bonakis, Anastasios, additional, Trapali, Xenia Geronicola, additional, Stamelou, Maria, additional, and Stefanis, Leonidas, additional

Published
2023
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14. The Pain in Dystonia Scale (PIDS)—Development and Validation in Cervical Dystonia

Author

Bruno, Veronica, primary, Achen, Beatrice, additional, Morgante, Francesca, additional, Erro, Roberto, additional, Fox, Susan H., additional, Edwards, Mark J., additional, Schrag, Anette, additional, Stamelou, Maria, additional, Appel‐Cresswell, Silke, additional, Defazio, Giovanni, additional, Chaudhuri, K. Ray, additional, Pirio Richardson, Sarah, additional, Jinnah, Hyder A., additional, and Martino, Davide, additional

Published
2023
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15. Impact ofAPOEGenotype on Cognition in Idiopathic and Genetic Forms of Parkinson's Disease

Author

Koros, Christos, primary, Brockmann, Kathrin, additional, Simitsi, Athina‐Maria, additional, Bougea, Anastasia, additional, Liu, Hui, additional, Hauser, Ann‐Kathrin, additional, Schulte, Claudia, additional, Lerche, Stefanie, additional, Pachi, Ioanna, additional, Papagiannakis, Nikolaos, additional, Antonelou, Roubina, additional, Zahou, Athina, additional, Wurster, Isabel, additional, Efthymiopoulou, Efthymia, additional, Beratis, Ion, additional, Maniati, Matina, additional, Moraitou, Marina, additional, Michelakakis, Helen, additional, Paraskevas, Georgios, additional, Papageorgiou, Sokratis G., additional, Potagas, Constantin, additional, Papadimitriou, Dimitra, additional, Bozi, Maria, additional, Stamelou, Maria, additional, Gasser, Thomas, additional, and Stefanis, Leonidas, additional

Published
2023
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16. Mediterranean diet is associated with a lower probability of prodromal Parkinson's disease and risk for Parkinson's disease/dementia with Lewy bodies: A longitudinal study

Author

Maraki, Maria I., primary, Yannakoulia, Mary, additional, Xiromerisiou, Georgia, additional, Stefanis, Leonidas, additional, Charisis, Sokratis, additional, Giagkou, Nikolaos, additional, Kosmidis, Mary H., additional, Dardiotis, Efthimios, additional, Hadjigeorgiou, Georgios M., additional, Sakka, Paraskevi, additional, Scarmeas, Nikolaos, additional, and Stamelou, Maria, additional

Published
2023
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17. Author Correction: Safety and efficacy of anti-tau monoclonal antibody gosuranemab in progressive supranuclear palsy: a phase 2, randomized, placebo-controlled trial

Author

Dam, Tien, Boxer, Adam L, Yang, Lili, Shill, Holly, Shprecher, David, Stamelou, Maria, Steiger, Malcolm, Takahashi, Yuji, Takigawa, Hiroshi, Tartaglia, Carmela, Toenges, Lars, Truong, Daniel, Tse, Winona, Tidemann-Miller, Beth, Tuite, Paul, Volc, Dieter, Wills, Anne-Marie A, Woitalla, Dirk, Xie, Tao, Yuasa, Tatsuhiko, Zauber, Sarah Elizabeth, Zesiewicz, Theresa, Kupferman, Joseph, Harper, Kristine, Kamisoglu, Kubra, Wald, Michael J, Graham, Danielle L, Gedney, Liz, O'Gorman, John, Haeberlein, Samantha Budd, Golbe, Lawrence I, Group, PASSPORT Study, Aiba, Ikuko, Antonini, Angelo, Apetauerova, Diana, Azulay, Jean-Philippe, Martinez, Ernest Balaguer, Bang, Jee, Barone, Paolo, Barrett, Matthew, Bega, Danny, Höglinger, Günter, Berg, Daniela, Corrales, Koldo Berganzo, Bordelon, Yvette, Brandt, Moritz, Brueggemann, Norbert, Castelnovo, Giovanni, Ceravolo, Roberto, Chuang, Rosalind, Chung, Sun Ju, Morris, Huw R, Church, Alistair, Corvol, Jean-Christophe, Cudia, Paola, Dale, Marian, Defebvre, Luc, Drapier, Sophie, Driver-Dunckley, Erika D, Ebersbach, Georg, Eggert, Karla M, Ellenbogen, Aaron, Litvan, Irene, Eusebio, Alexandre, Evans, Andrew H, Fedorova, Natalia, Finger, Elizabeth, Foubert-Samier, Alexandra, Ghosh, Boyd, Golbe, Lawrence, Perez, Francisco Grandas, Grossman, Murray, Hall, Deborah, Lang, Anthony E, Hamada, Kyoko, Hasegawa, Kazuko, Hoeglinger, Guenter, Honig, Lawrence, Houghton, David, Huang, Xuemei, Isaacson, Stuart, Koh, SeongBeom, Bojarski, Jaime Kulisevsky, Leigh, Peter Nigel, Lozano, Juan Jose Lopez, Moreno, Jose Luis Lopez-Sendon, Ludolph, Albert Christian, Piudo, Ma Rosario Luquin, Torres, Irene Martinez, McFarland, Nikolaus, Meissner, Wassilios, Mestre, Tiago, Rivera, Pablo Mir, Molho, Eric, Mollenhauer, Britt, Murata, Miho, Obi, Tomokazu, Magne, Fabienne Ory, O'Suilleabhain, Padraig, Pahwa, Rajesh, Pantelyat, Alexander, Grundman, Michael, Pavese, Nicola, Pokhabov, Dmitry, Prudlo, Johannes, Rodriguez-Porcel, Federico, Rowe, James, Savitt, Joseph, Schnitzler, Alfons, Schulz, Joerg B, Seppi, Klaus, and Shah, Binit

Subjects
ddc:610, General Medicine, General Biochemistry, Genetics and Molecular Biology
Published
2022

18. Impact ofAPOEgenotype on cognition in idiopathic and genetic forms of Parkinson’s disease

Author

Koros, Christos, primary, Brockmann, Kathrin, additional, Simitsi, Athina-Maria, additional, Bougea, Anastasia, additional, Liu, Hui, additional, Hauser, Ann-Kathrin, additional, Schulte, Claudia, additional, Lerche, Stefanie, additional, Pachi, Ioanna, additional, Papagiannakis, Nikolaos, additional, Antonelou, Roubina, additional, Zahou, Athina, additional, Wurster, Isabel, additional, Efthymiopoulou, Efthymia, additional, Beratis, Ion, additional, Maniati, Matina, additional, Moraitou, Marina, additional, Michelakakis, Helen, additional, Paraskevas, Georgios, additional, Papageorgiou, Sokratis G., additional, Potagas, Constantin, additional, Papadimitriou, Dimitra, additional, Bozi, Maria, additional, Stamelou, Maria, additional, Gasser, Thomas, additional, and Stefanis, Leonidas, additional

Published
2022
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20. Association of the Polygenic Risk Score With the Probability of Prodromal Parkinson’s Disease in Older Adults

Author

Maraki, Maria I., primary, Hatzimanolis, Alexandros, additional, Mourtzi, Niki, additional, Stefanis, Leonidas, additional, Yannakoulia, Mary, additional, Kosmidis, Mary H., additional, Dardiotis, Efthimios, additional, Hadjigeorgiou, Georgios M., additional, Sakka, Paraskevi, additional, Ramirez, Alfredo, additional, Grenier-Boley, Benjamin, additional, Lambert, Jean-Charles, additional, Heilmann-Heimbach, Stefanie, additional, Stamelou, Maria, additional, Scarmeas, Nikolaos, additional, and Xiromerisiou, Georgia, additional

Published
2021
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21. Asymptomatic carriers of the p.A53T SNCA mutation: data from the PPMI study

Author

Simitsi, Athina Maria, primary, Koros, Christos, additional, Stamelou, Maria, additional, Beratis, Ion, additional, Efthymiopoulou, Efthymia, additional, Papadimitriou, Dimitra, additional, Bougea, Anastasia, additional, Picillo, Marina, additional, Stanitsa, Evangelia, additional, Papagiannakis, Nikolaos, additional, Antonelou, Roubina, additional, Pachi, Ioanna, additional, Papageorgiou, Sokratis G, additional, Barone, Paolo, additional, and Stefanis, Leonidas, additional

Published
2021
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22. Serum uric acid and total bilirubin as putative biomarkers of resistance in Prodromal Parkinson’s disease: Longitudinal data from the PPMI study

Author

Koros, Christos, primary, Simitsi, Athina-Maria, additional, Bougea, Anastasia, additional, Papagiannakis, Nikolaos, additional, Prentakis, Andreas, additional, Papadimitriou, Dimitra, additional, Pachi, Ioanna, additional, Angelopoulou, Efthalia, additional, Beratis, Ion, additional, Efthymiopoulou, Efthymia, additional, Lourentzos, Konstantinos, additional, Bozi, Maria, additional, Papageorgiou, Sokratis G., additional, Trapali, Xenia Geronicola, additional, Bonakis, Anastasios, additional, Stamelou, Maria, additional, and Stefanis, Leonidas, additional

Published
2021
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23. Plasma Glutathione and Prodromal Parkinson's Disease Probability.

Author

Charisis, Sokratis, Ntanasi, Eva, Stamelou, Maria, Xiromerisiou, Georgia, Maraki, Maria, Veskoukis, Aristidis S., Yannakoulia, Mary, Kosmidis, Mary H., Anastasiou, Costas A., Giagkou, Nikolaos, Dardiotis, Efthimios, Hadjigeorgiou, Georgios, Sakka, Paraskevi, Kouretas, Demetrios, Stefanis, Leonidas, and Scarmeas, Nikolaos

Abstract

Background: A decrease in glutathione (GSH) levels is considered one of the earliest biochemical changes in Parkinson's disease (PD). Objective: The authors explored the potential role of plasma GSH as a risk/susceptibility biomarker for prodromal PD (pPD) by examining its longitudinal associations with pPD probability trajectories. Methods: A total of 405 community‐dwelling participants (median age [interquartile range] = 73.2 [7.41] years) without clinical features of parkinsonism were followed for a mean (standard deviation) of 3.0 (0.9) years. Results: A 1 μmol/L increase in plasma GSH was associated with 0.4% (95% confidence interval [CI], 0.1%–0.7%; P = 0.017) less increase in pPD probability for 1 year of follow‐up. Compared with participants in the lowest GSH tertile, participants in the highest GSH tertile had a 12.9% (95% CI, 22.4%–2.2%; P = 0.020) slower rate of increase of pPD probability for 1 year of follow‐up. Conclusion: Plasma GSH was associated with pPD probability trajectories; therefore, it might assist in the identification of individuals who are likely to reach the threshold for pPD diagnosis more rapidly. © 2021 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2022
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24. External Factors Modulating Pain and Pain‐Related Functional Impairment in Cervical Dystonia.

Author

Martino, Davide, Achen, Beatrice M.C., Morgante, Francesca, Erro, Roberto, Fox, Susan H., Edwards, Mark J., Schrag, Anette, Stamelou, Maria, Appel‐Cresswell, Silke, Defazio, Giovanni, Ray‐Chaudhuri, Kallol, Poplawska‐Domaszewicz, Karolina, Richardson, Sarah Pirio, Jinnah, Hyder A., and Bruno, Veronica A.

Subjects
*DYSTONIA, *REGRESSION analysis, *STATISTICAL correlation, *QUALITY of life, *SYMPTOMS
Abstract

Background Objective Methods Results Conclusion Little is known about factors modulating pain and pain‐related functional impairment in isolated cervical dystonia (CD).The aim was to assess the prevalence and interrelationship between pain‐modulating factors and pain‐related determinants of functional impairment and quality of life in CD.We analyzed pain‐aggravating and pain‐relieving external factors, the degree of pain‐related functional impact on routine activities, and the relationship between these and pain severity, using cross‐sectional data collected using the Pain in Dystonia Scale (PIDS) from 85 participants with CD. Pairwise correlation analyses and age‐ and sex‐adjusted linear regression models estimated the relationship between pain‐modulating factors and pain severity, and the impact of pain severity, dystonia severity, and psychiatric symptoms on pain‐related functional impairment and disease‐specific quality of life (measured using the Craniocervical Dystonia Questionnaire‐24).Stress and prolonged fixed position were the most frequent and impacting pain triggers, with women reporting larger impact. The average impact of pain‐relieving factors was lower than that of pain triggers. Physical exercise and social gatherings were the most impacted activities by pain in CD. The intensity of external modulating factors was a predictor of pain severity. Severity of pain, CD, and psychiatric symptoms independently predicted pain‐related functional impairment, whereas quality of life was predicted by pain severity, pain‐related functional impairment, and psychiatric symptom severity, but not dystonia severity.The PIDS provides insight into external modulation and functional impact of pain in CD. The pattern of external modulation of pain in CD is in line with a multifactorial modulation and complex physiology. [ABSTRACT FROM AUTHOR]

Published
2024
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25. The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy

Author

Gregor K. Wenning, Iva Stankovic, Luca Vignatelli, Alessandra Fanciulli, Giovanna Calandra‐Buonaura, Klaus Seppi, Jose‐Alberto Palma, Wassilios G. Meissner, Florian Krismer, Daniela Berg, Pietro Cortelli, Roy Freeman, Glenda Halliday, Günter Höglinger, Anthony Lang, Helen Ling, Irene Litvan, Phillip Low, Yasuo Miki, Jalesh Panicker, Maria Teresa Pellecchia, Niall Quinn, Ryuji Sakakibara, Maria Stamelou, Eduardo Tolosa, Shoji Tsuji, Tom Warner, Werner Poewe, Horacio Kaufmann, Wenning, Gregor K, Stankovic, Iva, Vignatelli, Luca, Fanciulli, Alessandra, Calandra-Buonaura, Giovanna, Seppi, Klau, Palma, Jose-Alberto, Meissner, Wassilios G, Krismer, Florian, Berg, Daniela, Cortelli, Pietro, Freeman, Roy, Halliday, Glenda, Höglinger, Günter, Lang, Anthony, Ling, Helen, Litvan, Irene, Low, Phillip, Miki, Yasuo, Panicker, Jalesh, Pellecchia, Maria Teresa, Quinn, Niall, Sakakibara, Ryuji, Stamelou, Maria, Tolosa, Eduardo, Tsuji, Shoji, Warner, Tom, Poewe, Werner, and Kaufmann, Horacio

Subjects
Consensus, diagnosis, Clinical Sciences, multiple system atrophy, Consensu, Rare Diseases, pathology [Brain], pathology [Multiple System Atrophy], Humans, ddc:610, Prospective Studies, screening and diagnosis, Neurology & Neurosurgery, Prevention, Neurosciences, Brain, Human Movement and Sports Sciences, Multiple System Atrophy, diagnostic criteria, Magnetic Resonance Imaging, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Detection, diagnosi, Prospective Studie, diagnosis [Multiple System Atrophy], Neurology, Neurology (clinical), 4.2 Evaluation of markers and technologies, Human
Abstract

BackgroundThe second consensus criteria for the diagnosis of multiple system atrophy (MSA) are widely recognized as the reference standard for clinical research, but lack sensitivity to diagnose the disease at early stages.ObjectiveTo develop novel Movement Disorder Society (MDS) criteria for MSA diagnosis using an evidence-based and consensus-based methodology.MethodsWe identified shortcomings of the second consensus criteria for MSA diagnosis and conducted a systematic literature review to answer predefined questions on clinical presentation and diagnostic tools relevant for MSA diagnosis. The criteria were developed and later optimized using two Delphi rounds within the MSA Criteria Revision Task Force, a survey for MDS membership, and a virtual Consensus Conference.ResultsThe criteria for neuropathologically established MSA remain unchanged. For a clinical MSA diagnosis a new category of clinically established MSA is introduced, aiming for maximum specificity with acceptable sensitivity. A category of clinically probable MSA is defined to enhance sensitivity while maintaining specificity. A research category of possible prodromal MSA is designed to capture patients in the earliest stages when symptoms and signs are present, but do not meet the threshold for clinically established or clinically probable MSA. Brain magnetic resonance imaging markers suggestive of MSA are required for the diagnosis of clinically established MSA. The number of research biomarkers that support all clinical diagnostic categories will likely grow.ConclusionsThis set of MDS MSA diagnostic criteria aims at improving the diagnostic accuracy, particularly in early disease stages. It requires validation in a prospective clinical and a clinicopathological study. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

26. Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.

Author

Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS, Dalgard C, Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, and Lee WP

Published
2024
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27. Functional neurological disorder in Europe: regional differences in education and health policy.

Author

Serranová T, Di Vico I, Tinazzi M, Aybek S, Bilic E, Binzer S, Bøen E, Bruggeman A, Bratanov C, Cabreira VRA, Golder D, Dunalska A, Falup-Pecurariu C, Garcin B, Gelauff J, Laffan A, Podnar S, Pareés I, Plender T, Popkirov S, Romanenko V, Schwingenschuh P, Seliverstov Y, Sjöström C, Škorvánek M, Stamelou M, Zailskas D, Edwards MJ, and Stone J

Subjects
Humans, Europe, Nervous System Diseases therapy, Neurology education, Neurologists, Multiple Sclerosis therapy, Health Services Accessibility, Health Policy
Abstract

Background: Functional neurological disorder (FND) is a common cause of neurological disability. Despite recent advances in pathophysiological understanding and treatments, application of this knowledge to clinical practice is variable and limited., Objective: Our aim was to provide an expert overview of the state of affairs of FND practice across Europe, focusing on education and training, access to specialized care, reimbursement and disability policies, and academic and patient-led representation of people with FND., Methods: We conducted a survey across Europe, featuring one expert per country. We asked experts to compare training and services for people with FND to those provided to people with multiple sclerosis (MS)., Results: Responses from 25 countries revealed that only five included FND as a mandatory part of neurological training, while teaching about MS was uniformly included. FND was part of final neurology examinations in 3/17 countries, unlike MS that was included in all 17. Seventeen countries reported neurologists with an interest in FND but the estimated mean ratio of FND-interested neurologists to MS neurologists was 1:20. FND coding varied, with psychiatric coding for FND impacting treatment access and disability benefits in the majority of countries. Twenty countries reported services refusing to see FND patients. Eight countries reported an FND special interest group or network; 11 reported patient-led organizations., Conclusions: FND is largely a marginal topic within European neurology training and there is limited access to specialized care and disability benefits for people with FND across Europe. We discuss how this issue can be addressed at an academic, healthcare and patient organization level., (© 2024 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Published
2024
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28. Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.

Author

Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS, Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, and Lee WP

Abstract

Importance: The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to H1 and H2, various structural forms of 17q21.31, characterized by the copy number of α, β, and γ duplications, have been identified. However, the specific effect of each structural form on the risk of PSP has never been evaluated in a large cohort study., Objective: To assess the association of different structural forms of 17q.21.31, defined by the copy numbers of α, β, and γ duplications, with the risk of PSP and MAPT sub-haplotypes., Design Setting and Participants: Utilizing whole genome sequencing data of 1,684 (1,386 autopsy confirmed) individuals with PSP and 2,392 control subjects, a case-control study was conducted to investigate the association of copy numbers of α, β, and γ duplications and structural forms of 17q21.31 with the risk of PSP. All study subjects were selected from the Alzheimer's Disease Sequencing Project (ADSP) Umbrella NG00067.v7. Data were analyzed between March 2022 and November 2023., Main Outcomes and Measures: The main outcomes were the risk (odds ratios [ORs]) for PSP with 95% CIs. Risks for PSP were evaluated by logistic regression models., Results: The copy numbers of α and β were associated with the risk of PSP only due to their correlation with H1 and H2, while the copy number of γ was independently associated with the increased risk of PSP. Each additional duplication of γ was associated with 1.10 (95% CI, 1.04-1.17; P = 0.0018) fold of increased risk of PSP when conditioning H1 and H2. For the H1 haplotype, addition γ duplications displayed a higher odds ratio for PSP: the odds ratio increases from 1.21 (95%CI 1.10-1.33, P = 5.47 × 10 -5 ) for H1β1γ1 to 1.29 (95%CI 1.16-1.43, P = 1.35 × 10 -6 ) for H1β1γ2, 1.45 (95%CI 1.27-1.65, P = 3.94 × 10 -8 ) for H1β1γ3, and 1.57 (95%CI 1.10-2.26, P = 1.35 × 10 -2 ) for H1β1γ4. Moreover, H1β1γ3 is in linkage disequilibrium with H1c (R 2 = 0.31), a widely recognized MAPT sub-haplotype associated with increased risk of PSP. The proportion of MAPT sub-haplotypes associated with increased risk of PSP (i.e., H1c, H1d, H1g, H1o, and H1h) increased from 34% in H1β1γ1 to 77% in H1β1γ4., Conclusions and Relevance: This study revealed that the copy number of γ was associated with the risk of PSP independently from H1 and H2. The H1 haplotype with more γ duplications showed a higher odds ratio for PSP and were associated with MAPT sub-haplotypes with increased risk of PSP. These findings expand our understanding of how the complex structure at 17q21.31 affect the risk of PSP., Competing Interests: Competing interests Laura Molina-Porcel received income from Biogen as a consultant in 2022. Gesine Respondek is now employed by Roche (Hoffmann-La Roche, Basel, Switzerland) since 2021. Her affiliation whilst completing her contribution to this manuscript was German Center for Neurodegenerative Diseases (DZNE), Munich, Germany. Thomas G Beach is a consultant for Aprinoia Therapeutics and a Scientific Advisor and stock option holder for Vivid Genomics. Huw Morris is employed by UCL. In the last 12 months he reports paid consultancy from Roche, Aprinoia, AI Therapeutics and Amylyx; lecture fees/honoraria - BMJ, Kyowa Kirin, Movement Disorders Society. Huw Morris is a co-applicant on a patent application related to C9ORF72 - Method for diagnosing a neurodegenerative disease (PCT/GB2012/052140). Giovanni Coppola is currently an employee of Regeneron Pharmaceuticals. Alison Goate serves on the SAB for Genentech and Muna Therapeutics.

Published
2024
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29. Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.

Author

Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Bastard NL, Gearing M, Kaat LD, Swieten JCV, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Deerlin VMV, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS, Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, and Lee WP

Abstract

Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were based on genotype array, therefore, were inadequate for the analysis of rare variants as well as larger mutations, such as small insertions/deletions (indels) and structural variants (SVs)., Method: In this study, we performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), indels, and SVs, in a cohort of 1,718 cases and 2,944 controls of European ancestry. Of the 1,718 PSP individuals, 1,441 were autopsy-confirmed and 277 were clinically diagnosed., Results: Our analysis of common SNVs and indels confirmed known genetic loci at MAPT , MOBP , S TX6 , SLCO1A2 , DUSP10 , and SP1 , and further uncovered novel signals in APOE , FCHO1/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1 . Notably, in contrast to Alzheimer's disease (AD), we observed the APOE ε2 allele to be the risk allele in PSP. Analysis of rare SNVs and indels identified significant association in ZNF592 and further gene network analysis identified a module of neuronal genes dysregulated in PSP. Moreover, seven common SVs associated with PSP were observed in the H1/H2 haplotype region (17q21.31) and other loci, including IGH , PCMT1 , CYP2A13 , and SMCP . In the H1/H2 haplotype region, there is a burden of rare deletions and duplications ( P = 6.73×10 -3 ) in PSP., Conclusions: Through WGS, we significantly enhanced our understanding of the genetic basis of PSP, providing new targets for exploring disease mechanisms and therapeutic interventions., Competing Interests: Competing interests Laura Molina-Porcel received income from Biogen as a consultant in 2022. Gesine Respondek is now employed by Roche (Hoffmann-La Roche, Basel, Switzerland) since 2021. Her affiliation whilst completing her contribution to this manuscript was German Center for Neurodegenerative Diseases (DZNE), Munich, Germany. Thomas G Beach is a consultant for Aprinoia Therapeutics and a Scientific Advisor and stock option holder for Vivid Genomics. Huw Morris is employed by UCL. In the last 12 months he reports paid consultancy from Roche, Aprinoia, AI Therapeutics and Amylyx; lecture fees/honoraria - BMJ, Kyowa Kirin, Movement Disorders Society. Huw Morris is a co-applicant on a patent application related to C9ORF72 - Method for diagnosing a neurodegenerative disease (PCT/GB2012/052140). Giovanni Coppola is currently an employee of Regeneron Pharmaceuticals. Alison Goate serves on the SAB for Genentech and Muna Therapeutics.

Published
2024
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30. Impact of APOE Genotype on Cognition in Idiopathic and Genetic Forms of Parkinson's Disease.

Author

Koros C, Brockmann K, Simitsi AM, Bougea A, Liu H, Hauser AK, Schulte C, Lerche S, Pachi I, Papagiannakis N, Antonelou R, Zahou A, Wurster I, Efthymiopoulou E, Beratis I, Maniati M, Moraitou M, Michelakakis H, Paraskevas G, Papageorgiou SG, Potagas C, Papadimitriou D, Bozi M, Stamelou M, Gasser T, and Stefanis L

Subjects
Humans, alpha-Synuclein genetics, Apolipoproteins E genetics, Cognition, Genotype, Parkinson Disease genetics
Published
2023
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