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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

2. Correction: 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, III, 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

Published
2024
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4. Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms

Author

Koutsis, Georgios, Kartanou, Chrisoula, Kontogeorgiou, Zoi, Koniari, Chrysoula, Mitrousias, Alexandros, Pellerin, David, Dicaire, Marie-Jose, Iruzubieta, Pablo, Danzi, Matt C., Athanassopoulos, Konstantinos, Ragazos, Nikolaos, Stamelou, Maria, Rentzos, Michail, Anagnostou, Evangelos, Zuchner, Stephan, Brais, Bernard, Houlden, Henry, Panas, Marios, Stefanis, Leonidas, and Karadima, Georgia

Published
2024
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5. 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

6. Worldwide barriers to genetic testing for movement disorders

Author

Gatto, Emilia M, Walker, Ruth H, Gonzalez, Claudio, Cesarini, Martin, Cossu, Giovanni, Stephen, Christopher D, Balint, Bettina, Rodríguez‐Violante, Mayela, Jankovic, Joseph, Morgante, Francesca, Jinnah, Hyder A, Albanese, Alberto, Amorin, Ignacio, Bhatia, Kailash, Brandabur, Melanie, Canals, Francisca, Cardoso, Francisco, Cardozo, Adriana, Carvalho, Vanessa, Chade, Anabel, Chana, Pedro, Darling, Alejandra, Correia Guedes, Leonor, De la Cerda, Andrés, de Koning‐Tijssen, Marina, Della Coletta, Marcus V, Duquette, Antoine, Espay, Alberto, Etcheverry, Jose, Ferreira, Joaquim, Friedman, Jennifer, Fung, Victor, Ganos, Christos, Ruiz, Pedro Garcia, Gershanik, Oscar, Gross, Kenneth BV, Han‐Joon, Kim, Kaji, Ruyji, Kotschet, Katya, Rosa, Andres Lescano Da, Litvan, Irene, Lubarr, Naomi, Marano, Massimo, Josep Martí, Maria, Martinez Ramirez, Daniel, Miyasaki, Janis, Münchau, Alexander, Chesta, Daniela Muñoz, Pal, Pramod, Peralta, María Cecilia, Phielipp, Nicolás, Maria Riboldi, Giulietta, Oroz, María Cruz Rodríguez, Rodriguez‐Porcel, Federico, Sarva, Harini, Schoels, Ludger, Stamelou, Maria, and Uribe Roca, Claudia

Subjects
Neurodegenerative, Genetic Testing, Clinical Research, Neurosciences, Genetics, Neurological, Asia, Europe, Humans, Middle East, Movement Disorders, Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society, Parkinson's disease, chorea, dystonia, genetic and inherited disorders, genetic diagnosis, genetic testing, movement disorders, whole exome sequencing, Clinical Sciences, Neurology & Neurosurgery
Abstract

Background and purposeDespite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.MethodsThe Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.ResultsSurvey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.ConclusionsThis survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.

Published
2021

7. 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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8. The Progressive Supranuclear Palsy Clinical Deficits Scale

Author

Piot, Ines, Schweyer, Kerstin, Respondek, Gesine, Stamelou, Maria, Sckopke, Philipp, Schenk, Thomas, Goetz, Christopher G, Stebbins, Glenn T, Höglinger, Günter U, Gasser, Thomas, Hermann, Andreas, Höglinger, Günter, Höllerhage, Matthias, Kimmich, Okka, Klockgether, Thomas, Levin, Johannes, Machetanz, Gerrit, Osterrath, Antje, Palleis, Carla, Prudlo, Johannes, Spottke, Annika, Berg, Daniela, Bürk, Katrin, Claßen, Joseph, Eggers, Carsten, Greuel, Andrea, Grimm, Max‐Joseph, Hermann, Lennard, Iankova, Vassilena, Jahn, Klaus, Jost, Wolfgang, Klietz, Martin, Kühn, Andrea, Marxreiter, Franz, Paschen, Steffen, Poetter‐Nerger, Monika, Preisl, Marie‐Therese, Prilop, Lisa, Tönges, Lars, Trenkwalder, Claudia, Warnecke, Tobias, Wegner, Florian, Winkler, Jürgen, Antonini, Angelo, P, Kailash P, L, Adam L, Colosimo, Carlo, Compta, Yaroslau, Corvol, Jean‐Christophe, I, Lawrence I, E, Anthony E, Litvan, Irene, R, Huw R, Nilsson, Christer, and Pantelyat, Alexander

Subjects
Pediatric, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Neurosciences, Brain Disorders, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Neurological, Disease Progression, Female, Fingers, Humans, Male, Motor Skills, Reproducibility of Results, Supranuclear Palsy, Progressive, progressive supranuclear palsy, clinical rating scales, outcome measures, power calculation, DescribePSP study group, ProPSP study group, MDS-endorsed PSP study group, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

BackgroundThere is currently no undisputed, validated, clinically meaningful measure for deficits in the broad spectrum of PSP phenotypes.ObjectiveTo develop a scale to monitor clinical deficits in patients with PSP across its broad phenotypes.MethodsThe Progressive Supranuclear Palsy Clinical Deficits Scale was conceptualized to cover seven clinical domains (Akinesia-rigidity, Bradyphrenia, Communication, Dysphagia, Eye movements, Finger dexterity, and Gait & balance), each scored from 0 to 3 (no, mild, moderate, or severe deficits). User guidelines were developed to standardize its application. Progressive Supranuclear Palsy Clinical Deficits Scale scores were collected in patients fulfilling the MDS-PSP diagnostic criteria in two independent, multicenter, observational studies, both cross-sectionally (exploratory DescribePSP cohort; confirmatory ProPSP cohort) and longitudinally (12-months' follow-up, both cohorts).ResultsCognitive pretesting demonstrated easy scale utility. In total, 164 patients were scored (70.4 ± 7.6 years; 62% males, 35% variant phenotypes). Mean Progressive Supranuclear Palsy Clinical Deficits Scale completion time was 4 minutes. The Progressive Supranuclear Palsy Clinical Deficits Scale total score correlated with existing scales (e.g., Progressive Supranuclear Palsy Rating Scale: R = 0.88; P

Published
2020

9. How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.

Author

Grimm, Max-Joseph, Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Ferguson, Leslie, Gelpi, Ellen, Giese, Armin, Grossman, Murray, Irwin, David J, Pantelyat, Alexander, Rajput, Alex, Roeber, Sigrun, van Swieten, John C, Troakes, Claire, Antonini, Angelo, Bhatia, Kailash P, Colosimo, Carlo, van Eimeren, Thilo, Kassubek, Jan, Levin, Johannes, Meissner, Wassilios G, Nilsson, Christer, Oertel, Wolfgang H, Piot, Ines, Poewe, Werner, Wenning, Gregor K, Boxer, Adam, Golbe, Lawrence I, Josephs, Keith A, Litvan, Irene, Morris, Huw R, Whitwell, Jennifer L, Compta, Yaroslau, Corvol, Jean-Christophe, Lang, Anthony E, Rowe, James B, Höglinger, Günter U, and Movement Disorder Society-endorsed PSP Study Group

Subjects
Movement Disorder Society-endorsed PSP Study Group, Brain, Humans, Parkinsonian Disorders, Supranuclear Palsy, Progressive, Ocular Motility Disorders, Sensation Disorders, Autopsy, Retrospective Studies, Cohort Studies, Adult, Aged, Aged, 80 and over, Middle Aged, Societies, Medical, Female, Male, Postural Balance, Cognitive Dysfunction, autopsy, diversity, phenotype, progressive supranuclear palsy, Brain Disorders, Pediatric, Neurosciences, Rare Diseases, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, 4.2 Evaluation of markers and technologies, Neurology & Neurosurgery, Clinical Sciences, Human Movement and Sports Sciences
Abstract

BackgroundThe Movement Disorder Society criteria for progressive supranuclear palsy define diagnostic allocations, stratified by certainty levels and clinical predominance types. We aimed to study the frequency of ambiguous multiple allocations and to develop rules to eliminate them.MethodsWe retrospectively collected standardized clinical data by chart review in a multicenter cohort of autopsy-confirmed patients with progressive supranuclear palsy, to classify them by diagnostic certainty level and predominance type and to identify multiple allocations.ResultsComprehensive data were available from 195 patients. More than one diagnostic allocation occurred in 157 patients (80.5%). On average, 5.4 allocations were possible per patient. We developed four rules for Multiple Allocations eXtinction (MAX). They reduced the number of patients with multiple allocations to 22 (11.3%), and the allocations per patient to 1.1.ConclusionsThe proposed MAX rules help to standardize the application of the Movement Disorder Society criteria for progressive supranuclear palsy. © 2019 International Parkinson and Movement Disorder Society.

Published
2019

11. 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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12. 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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13. 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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17. Radiological biomarkers for diagnosis in PSP: Where are we and where do we need to be?

Author

Whitwell, Jennifer L, Höglinger, Günter U, Antonini, Angelo, Bordelon, Yvette, Boxer, Adam L, Colosimo, Carlo, van Eimeren, Thilo, Golbe, Lawrence I, Kassubek, Jan, Kurz, Carolin, Litvan, Irene, Pantelyat, Alexander, Rabinovici, Gil, Respondek, Gesine, Rominger, Axel, Rowe, James B, Stamelou, Maria, Josephs, Keith A, and Group, for the Movement Disorder Society‐endorsed PSP Study

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Bioengineering, Biomedical Imaging, Brain Disorders, Clinical Research, Neurodegenerative, Prevention, Rare Diseases, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Biomarkers, Humans, Neuroimaging, Supranuclear Palsy, Progressive, progressive supranuclear palsy, diagnosis, magnetic resonance imaging, positron emission tomography, single-photon emission computed tomography, Movement Disorder Society-endorsed PSP Study Group, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

PSP is a pathologically defined neurodegenerative tauopathy with a variety of clinical presentations including typical Richardson's syndrome and other variant PSP syndromes. A large body of neuroimaging research has been conducted over the past two decades, with many studies proposing different structural MRI and molecular PET/SPECT biomarkers for PSP. These include measures of brainstem, cortical and striatal atrophy, diffusion weighted and diffusion tensor imaging abnormalities, [18F] fluorodeoxyglucose PET hypometabolism, reductions in striatal dopamine imaging and, most recently, PET imaging with ligands that bind to tau. Our aim was to critically evaluate the degree to which structural and molecular neuroimaging metrics fulfill criteria for diagnostic biomarkers of PSP. We queried the PubMed, Cochrane, Medline, and PSYCInfo databases for original research articles published in English over the past 20 years using postmortem diagnosis or the NINDS-SPSP criteria as the diagnostic standard from 1996 to 2016. We define a five-level theoretical construct for the utility of neuroimaging biomarkers in PSP, with level 1 representing group-level findings, level 2 representing biomarkers with demonstrable individual-level diagnostic utility, level 3 representing biomarkers for early disease, level 4 representing surrogate biomarkers of PSP pathology, and level 5 representing definitive PSP biomarkers of PSP pathology. We discuss the degree to which each of the currently available biomarkers fit into this theoretical construct, consider the role of biomarkers in the diagnosis of Richardson's syndrome, variant PSP syndromes and autopsy confirmed PSP, and emphasize current shortfalls in the field. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Published
2017

18. Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Author

Respondek, Gesine, Kurz, Carolin, Arzberger, Thomas, Compta, Yaroslau, Englund, Elisabet, Ferguson, Leslie W, Gelpi, Ellen, Giese, Armin, Irwin, David J, Meissner, Wassilios G, Nilsson, Christer, Pantelyat, Alexander, Rajput, Alex, van Swieten, John C, Troakes, Claire, Josephs, Keith A, Lang, Anthony E, Mollenhauer, Brit, Müller, Ulrich, Whitwell, Jennifer L, Antonini, Angelo, Bhatia, Kailash P, Bordelon, Yvette, Corvol, Jean‐Christophe, Colosimo, Carlo, Dodel, Richard, Grossman, Murray, Kassubek, Jan, Krismer, Florian, Levin, Johannes, Lorenzl, Stefan, Morris, Huw, Nestor, Peter, Oertel, Wolfgang H, Rabinovici, Gil D, Rowe, James B, van Eimeren, Thilo, Wenning, Gregor K, Boxer, Adam, Golbe, Lawrence I, Litvan, Irene, Stamelou, Maria, Höglinger, Günter U, and Group, for the Movement Disorder Society‐Endorsed PSP Study

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Brain Disorders, Dementia, Alzheimer's Disease Related Dementias (ADRD), Pick's Disease, Rare Diseases, Acquired Cognitive Impairment, Neurodegenerative, Neurosciences, Aging, Parkinson's Disease, Frontotemporal Dementia (FTD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aetiology, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Neurological, Humans, Supranuclear Palsy, Progressive, Progressive supranuclear palsy, clinical features, diagnosis, clinico-pathological series, systematic review, Movement Disorder Society-Endorsed PSP Study Group, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundProgressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes.ObjectiveTo identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP.MethodsWe performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort.ResultsOf 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity.ConclusionsOur results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP. © 2017 International Parkinson and Movement Disorder Society.

Published
2017

19. Longitudinal magnetic resonance imaging in progressive supranuclear palsy: A new combined score for clinical trials

Author

Höglinger, Günter U, Schöpe, Jakob, Stamelou, Maria, Kassubek, Jan, del Ser, Teodoro, Boxer, Adam L, Wagenpfeil, Stefan, Huppertz, Hans‐Jürgen, Investigators, for the AL‐108‐231, Investigators, the Tauros MRI, and Group, the Movement Disorder Society‐Endorsed PSP Study

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Clinical Research, Clinical Trials and Supportive Activities, Biomedical Imaging, Brain Disorders, Neurodegenerative, Neurological, Aged, Clinical Trials as Topic, Disease Progression, Female, Frontal Lobe, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Male, Mesencephalon, Middle Aged, Supranuclear Palsy, Progressive, Third Ventricle, progressive supranuclear palsy, magnetic resonance imaging, volumetry, power calculation, clinical trials, AL-108-231 Investigators, Tauros MRI Investigators, Movement Disorder Society-Endorsed PSP Study Group, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundTwo recent, randomized, placebo-controlled phase II/III trials (clinicaltrials.gov: NCT01110720, NCT01049399) of davunetide and tideglusib in progressive supranuclear palsy (PSP) generated prospective, 1-year longitudinal datasets of high-resolution T1-weighted three-dimensional MRI.ObjectiveThe objective of this study was to develop a quantitative MRI disease progression measurement for clinical trials.MethodsThe authors performed a fully automated quantitative MRI analysis employing atlas-based volumetry and provide sample size calculations based on data collected in 99 PSP patients assigned to placebo in these trials. Based on individual volumes of 44 brain compartments and structures at baseline and 52 weeks of follow-up, means and standard deviations of annualized percentage volume changes were used to estimate standardized effect sizes and the required sample sizes per group for future 2-armed, placebo-controlled therapeutic trials.ResultsThe highest standardized effect sizes were found for midbrain, frontal lobes, and the third ventricle. Using the annualized percentage volume change of these structures to detect a 50% change in the 1-year progression (80% power, significance level 5%) required lower numbers of patients per group (third ventricle, n = 32; midbrain, n = 37; frontal lobe, n = 43) than the best clinical scale (PSP rating scale total score, n = 58). A combination of volume changes in these 3 structures reduced the number of required patients to only 20 and correlated best with the progression in the clinical scales.ConclusionsWe propose the 1-year change in the volumes of third ventricle, midbrain, and frontal lobe as combined imaging read-out for clinical trials in PSP that require the least number of patients for detecting efficacy to reduce brain atrophy. © 2017 International Parkinson and Movement Disorder Society.

Published
2017

20. Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.

Author

Höglinger, Günter U, Respondek, Gesine, Stamelou, Maria, Kurz, Carolin, Josephs, Keith A, Lang, Anthony E, Mollenhauer, Brit, Müller, Ulrich, Nilsson, Christer, Whitwell, Jennifer L, Arzberger, Thomas, Englund, Elisabet, Gelpi, Ellen, Giese, Armin, Irwin, David J, Meissner, Wassilios G, Pantelyat, Alexander, Rajput, Alex, van Swieten, John C, Troakes, Claire, Antonini, Angelo, Bhatia, Kailash P, Bordelon, Yvette, Compta, Yaroslau, Corvol, Jean-Christophe, Colosimo, Carlo, Dickson, Dennis W, Dodel, Richard, Ferguson, Leslie, Grossman, Murray, Kassubek, Jan, Krismer, Florian, Levin, Johannes, Lorenzl, Stefan, Morris, Huw R, Nestor, Peter, Oertel, Wolfgang H, Poewe, Werner, Rabinovici, Gil, Rowe, James B, Schellenberg, Gerard D, Seppi, Klaus, van Eimeren, Thilo, Wenning, Gregor K, Boxer, Adam L, Golbe, Lawrence I, Litvan, Irene, and Movement Disorder Society-endorsed PSP Study Group

Subjects
Movement Disorder Society-endorsed PSP Study Group, Humans, Supranuclear Palsy, Progressive, Societies, Medical, Practice Guidelines as Topic, clinical diagnostic criteria, consensus-based, evidence-based, progressive supranuclear palsy, Brain Disorders, Neurosciences, Neurological, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

BackgroundPSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome.ObjectiveWe aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP.MethodsWe searched the PubMed, Cochrane, Medline, and PSYCInfo databases for articles published in English since 1996, using postmortem diagnosis or highly specific clinical criteria as the diagnostic standard. Second, we generated retrospective standardized clinical data from patients with autopsy-confirmed PSP and control diseases. On this basis, diagnostic criteria were drafted, optimized in two modified Delphi evaluations, submitted to structured discussions with consensus procedures during a 2-day meeting, and refined in three further Delphi rounds.ResultsDefined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context-dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. Within each of these domains, we propose three clinical features that contribute different levels of diagnostic certainty. Specific combinations of these features define the diagnostic criteria, stratified by three degrees of diagnostic certainty (probable PSP, possible PSP, and suggestive of PSP). Clinical clues and imaging findings represent supportive features.ConclusionsHere, we present new criteria aimed to optimize early, sensitive, and specific clinical diagnosis of PSP on the basis of currently available evidence. © 2017 International Parkinson and Movement Disorder Society.

Published
2017

21. 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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25. 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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26. Power calculations and placebo effect for future clinical trials in progressive supranuclear palsy.

Author

Stamelou, Maria, Schöpe, Jakob, Wagenpfeil, Stefan, Del Ser, Teodoro, Bang, Jee, Lobach, Iryna Y, Luong, Phi, Respondek, Gesine, Oertel, Wolfgang H, Boxer, AdamL, Höglinger, Günter U, and AL-108-231 Investigators, Tauros Investigators, and MDS-Endorsed PSP Study Group

Subjects
AL-108-231 Investigators, Tauros Investigators, and MDS-Endorsed PSP Study Group, Humans, Supranuclear Palsy, Progressive, Thiadiazoles, Oligopeptides, Activities of Daily Living, Severity of Illness Index, Sample Size, Placebo Effect, Research Design, Randomized Controlled Trials as Topic, Outcome Assessment, Health Care, clinical trials, placebo effect, power calculation, progressive supranuclear palsy, rate of progression, Clinical Trials and Supportive Activities, Neurosciences, Brain Disorders, Clinical Research, Neurodegenerative, Rare Diseases, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Neurological, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

BackgroundTwo recent randomized, placebo-controlled trials of putative disease-modifying agents (davunetide, tideglusib) in progressive supranuclear palsy (PSP) failed to show efficacy, but generated data relevant for future trials.MethodsWe provide sample size calculations based on data collected in 187 PSP patients assigned to placebo in these trials. A placebo effect was calculated.ResultsThe total PSP-Rating Scale required the least number of patients per group (N = 51) to detect a 50% change in the 1-year progression and 39 when including patients with ≤ 5 years disease duration. The Schwab and England Activities of Daily Living required 70 patients per group and was highly correlated with the PSP-Rating Scale. A placebo effect was not detected in these scales.ConclusionsWe propose the 1-year PSP-Rating Scale score change as the single primary readout in clinical neuroprotective or disease-modifying trials. The Schwab and England Activities of Daily Living could be used as a secondary outcome. © 2016 International Parkinson and Movement Disorder Society.

Published
2016

27. The relationship between environmental factors and different Parkinson's disease subtypes in Greece: Data analysis of the Hellenic Biobank of Parkinson's disease

Author

Angelopoulou, Efthalia, Bozi, Maria, Simitsi, Athina-Maria, Koros, Christos, Antonelou, Roubina, Papagiannakis, Nikolaos, Maniati, Matina, Poula, Dafni, Stamelou, Maria, Vassilatis, Demetrios K., Michalopoulos, Ioannis, Geronikolou, Styliani, Scarmeas, Nikolaos, and Stefanis, Leonidas

Published
2019
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28. Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study

Author

Wilson, Heather, Dervenoulas, George, Pagano, Gennaro, Koros, Christos, Yousaf, Tayyabah, Picillo, Marina, Polychronis, Sotirios, Simitsi, Athina, Giordano, Beniamino, Chappell, Zachary, Corcoran, Benjamin, Stamelou, Maria, Gunn, Roger N, Pellecchia, Maria Teresa, Rabiner, Eugenii A, Barone, Paolo, Stefanis, Leonidas, and Politis, Marios

Published
2019
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31. Contributors

Author

Alam, Gelareh, primary, Albino, C.M., additional, Almeida, Quincy J., additional, Alves, Guido W., additional, Anderton, Ryan S., additional, Andrzejewski, Kryspin, additional, Annesley, Sarah J., additional, Aufschnaiter, Andreas, additional, Ayres, Annelise, additional, Berge-Seidl, Victoria, additional, Birba, Agustina, additional, Bocanegra, Yamile, additional, Broderick, Patricia A., additional, Bubacco, Luigi, additional, Büttner, Sabrina, additional, Candeias, Emanuel, additional, Cardoso, Sandra Morais, additional, Chagraoui, Abdeslam, additional, Chiu, Wei-Hua, additional, Cogo, Susanna, additional, Corrente, José Eduardo, additional, Costa, Helena, additional, De Deurwaerdère, Philippe, additional, de Souza, Hellio Danny Nóbrega, additional, Dorieux, Flávia W.C., additional, Esteves, Ana Raquel, additional, Fagotti, Juliane, additional, Fisher, Paul R., additional, García, Adolfo M., additional, Garrido-Gil, Pablo, additional, Giagkou, Nikolaos, additional, Goldberg, Joshua A., additional, Greggio, Elisa, additional, Guzzi, Giusy, additional, Hang, Liting, additional, Heilman, Kenneth M., additional, Hosamani, Dr. Ravikumar, additional, Hu, Xiaoping P., additional, Huddleston, Daniel E., additional, Ibáñez, Agustín, additional, Ilkiw, Jessica L., additional, Inoue, Kiyoharu, additional, Ip, Chi Wang, additional, Jimenez-Del-Rio, Marlene, additional, Kaczyńska, Katarzyna, additional, Kenna, Jade, additional, Kim, Eung Yeop, additional, Kochanski, Ryan B., additional, Kohler, Verena, additional, Komuro, Jéssica Emy, additional, Koprich, James B., additional, Koros, Chistos, additional, Kunugi, Hiroshi, additional, Kuter, Katarzyna, additional, Labandeira-Garcia, Jose Luis, additional, Labandeira, Carmen M., additional, Langley, Jason, additional, Lauretti, Elisabetta, additional, Lavano, Angelo, additional, Lee, Jongho, additional, Lim, Kah-Leong, additional, Lima, Marcelo M.S., additional, Magalhães, João Duarte, additional, Mitrofanis, John, additional, Møller, Simon G., additional, Mroczek, Katelyn H., additional, Musacchio, Thomas, additional, Musco, Vanessa J., additional, Musgrove, Ruth E., additional, Noseda, Ana Carolina D., additional, O'Hashi, Kazunori, additional, Olchik, Maira Rozenfeld, additional, Oliveira-Giacomelli, Ágatha, additional, Orozco-Arroyave, Juan Rafael, additional, Padovani, Marina, additional, Papini, Silvia Justina, additional, Patel, Vinood B., additional, Patil, Ketan S., additional, Pedrosa, Maria A., additional, Praticò, Domenico, additional, Preedy, Victor R., additional, Puginier, Emilie, additional, Puig-Butillé, Joan Anton, additional, Puig, Susana, additional, Rajendram, Rajkumar, additional, Richardson, Jason R., additional, Rodrigues, Lais S., additional, Rodriguez-Perez, Ana I., additional, Rosen, Benjamin, additional, Sani, Sepehr, additional, Santos, Daniel, additional, Schelp, Arthur Oscar, additional, Schuff, Norbert, additional, Sedeño, Lucas, additional, Silva, Diana F., additional, Simitsi, Athina-Maria, additional, Sohya, Kazuhiro, additional, Stamelou, Maria, additional, Stefanis, Leonidas, additional, Sung, Young Hee, additional, Targa, Adriano D.S., additional, Tell-Marti, Gemma, additional, Toft, Mathias, additional, Tomic, Svetlana, additional, Torre, Attilio Della, additional, Torre, Domenico La, additional, Tosun, Duygu, additional, Ulrich, Henning, additional, Varanita, Tatiana, additional, Velez-Pardo, Carlos, additional, Volta, Mattia, additional, Warabi, Tateo, additional, Wenning, Leslie, additional, Wu, I-Wei, additional, Xiong, Yulan, additional, Yanagisawa, Nobuo, additional, Yu, Jianzhong, additional, Zhang, Yu, additional, and Zhou, Fu-Ming, additional

Published
2020
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32. Progressive Supranuclear Palsy

Author

Stamelou, Maria, Oertel, Wolfgang H., Falup-Pecurariu, Cristian, editor, Ferreira, Joaquim, editor, Martinez-Martin, Pablo, editor, and Chaudhuri, Kallol Ray, editor

Published
2017
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34. Axial motor clues to identify atypical parkinsonism: A multicentre European cohort study

Author

Østergaard, Karen, Stamelou, Maria, Tolosa, Eduardo, Kostic, Vladimir S., Cortelli, Pietro, Klockgether, Thomas, Dodel, Richard, Abele, Michael, Meissner, Wassilios, Reichmann, Heinz, Lynch, Tim, Slawek, Jaroslaw, Poewe, Werner, Wenning, Gregor K., Klaus Seppi, Mag, Krismer, Florian, Berg, Daniela, Ferreira, Joaquim, Houlden, Henry, Quinn, Niall P., Widner, Håkan, Gerhard, Alexander, Eggert, Karla Maria, Albanese, Alberto, Sorbo, Francesca del, Barone, Paolo, Pellecchia, Maria T., Bloem, Bas, Borm, Carlijn, Djaldetti, Ruth, Berardelli, Alfredo, Colosimo, Carlo, Berciano, Jose, Traykov, Latchezar, Giladi, Nir, Gurevich, Tanya, Rascol, Olivier, Galitzky, Monique, Gasser, Thomas, Borm, Carlijn D.J.M., Seppi, Klaus, Pellecchia, Maria Teresa, Johnsen, Erik L., Sambati, Luisa, Petrović, Igor, Kostić, Vladimir S., Brožová, Hana, Růžička, Evžen, Marti, Maria Jose, Canesi, Margherita, Post, Bart, Nonnekes, Jorik, and Bloem, Bastiaan R.

Published
2018
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35. 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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36. 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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37. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

Author

Carecchio, Miryam, Mencacci, Niccolò E., Iodice, Alessandro, Pons, Roser, Panteghini, Celeste, Zorzi, Giovanna, Zibordi, Federica, Bonakis, Anastasios, Dinopoulos, Argyris, Jankovic, Joseph, Stefanis, Leonidas, Bhatia, Kailash P., Monti, Valentina, R'Bibo, Lea, Veneziano, Liana, Garavaglia, Barbara, Fusco, Carlo, Wood, Nicholas, Stamelou, Maria, and Nardocci, Nardo

Published
2017
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46. 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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47. 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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48. The clinical syndrome of dystonia with anarthria/aphonia

Author

Ganos, Christos, Crowe, Belinda, Stamelou, Maria, Kresojević, Nikola, Lukić, Milica Ječmenica, Bras, Jose, Guerreiro, Rita, Taiwo, Funmilola, Balint, Bettina, Batla, Amit, Schneider, Susanne A., Erro, Roberto, Svetel, Marina, Kostić, Vladimir, Kurian, Manju A., and Bhatia, Kailash P.

Published
2016
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