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5. Dominance of Tau Burden in Cortical Over Subcortical Regions Mediates Glymphatic Activity and Clinical Severity in PSP

Author

Beeldverwerking ISI, Brain, Cancer, Hsu, Jung-Lung, Wei, Yi-Chia, Hsiao, Ing-Tsung, Lin, Kun-Ju, Yen, Tzu-Chen, Lu, Chin-Song, Wang, Han-Cheng, Leemans, Alexander, Weng, Yi-Hsin, Huang, Kuo-Lun, Beeldverwerking ISI, Brain, Cancer, Hsu, Jung-Lung, Wei, Yi-Chia, Hsiao, Ing-Tsung, Lin, Kun-Ju, Yen, Tzu-Chen, Lu, Chin-Song, Wang, Han-Cheng, Leemans, Alexander, Weng, Yi-Hsin, and Huang, Kuo-Lun

Published
2024

7. PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Author

Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, Van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Melanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A., Kuipers, Demy J.S., Quadri, Marialuisa, Agid, Yves, Anheim, Mathieu, Borg, Michel, Brice, Alexis, Broussolle, Emmanuel, Corvol, Jean Christophe, Damier, Philippe, Defebvre, Luc, Dürr, Alexandra, Durif, Franck, Houeto, Jean Luc, Krack, Paul, Klebe, Stephan, Lesage, Suzanne, Lohmann, Ebba, Martinez, Maria, Mangone, Graziella, Mariani, Louise Laure, Pollak, Pierre, Rascol, Olivier, Tison, François, Tranchant, Christine, Verin, Marc, Viallet, François, Vidailhet, Marie, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Lu, Bedia Marangozog, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouchetara, Sofiane A., Benhassine, Traki, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Romdhan, Sawssan Ben, Mhiri, Chokri, Bouhouche, Ahmed, Bonifati, Vincenzo, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Ferreira, Joaquim J., Guedes, Leonor Correia, Hanagasi, Hasmet A., Tufekcioglu, Zeynep, Elibol, Bulent, Dog.u, Okan, Gultekin, Murat, Chien, Hsin F., Barbosa, Egberto, Jardim, Laura Bannach, Rieder, Carlos R.M., Chang, Hsiu Chen, Lu, Chin Song, Wu-Chou, Yah Huei, Yeh, Tu Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Comi, Cristoforo, Raudino, Francesco, Bertolasi, Laura, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'aquila, Claudia, Iliceto, Giovanni, Toni, Vincenzo, Trianni, Giorgio, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Hassan, Bassem A., Breedveld, Guido J., Erasmus University Medical Center [Rotterdam] (Erasmus MC), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Faculty of Health Sciences [Pretoria], University of Pretoria [South Africa], Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Stellenbosch University, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Motivation, cerveau et comportement = Motivation, Brain and Behavior [ICM Paris] (MBB), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Tesson, Christelle, Clinical Genetics, and Neurology

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, PTPA, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], PPP2R4, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, parkinsonism, PP2A
Abstract

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T>G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C>A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.

Published
2023

8. LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Author

Bonifati, Vincenzo, Quadri, Marialuisa, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Rood, Janneke P.A, Vergouw, Leonie J.M., de Jong, Frank J., van Swieten, John C., Mattace-Raso, Francesco U.S., Leenders, Klaus L., Ferreira, Joaquim J., Correia Guedes, Leonor, Puschmann, Andreas, Ygland, Emil, Nilsson, Christer, Chien, Hsin F., Barbosa, Egberto, Bannach Jardim, Laura, Rieder, Carlos R.M., Chang, Hsiu-Chen, Lu, Chin-Song, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Riboldazzi, Giulio, Bono, Giorgio, Comi, Cristoforo, Padovani, Alessandro, Borroni, Barbara, Raudino, Francesco, Fincati, Emiliana, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Dalla Libera, Alessio, Abbruzzese, Giovanni, Cortelli, Pietro, Capellari, Sabina, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'Aquila, Claudia, Iliceto, Gianni, Toni, Vincenzo, Trianni, Giorgio, Gagliardi, Monica, Annesi, Grazia, Quattrone, Aldo, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Grochowska, Martyna M, Masius, Roy, Geut, Hanneke, Breedveld, Guido J, Kuipers, Demy, Minneboo, Michelle, Vergouw, Leonie J M, Carreras Mascaro, Ana, Yonova-Doing, Ekaterina, Simons, Erik, Zhao, Tianna, Di Fonzo, Alessio B, Parchi, Piero, Melis, Marta, Brouwer, Rutger W W, Heijsman, Daphne, Ingrassia, Angela M T, Calandra Buonaura, Giovanna, Rood, Janneke P, Rozemuller, Annemieke J, Sarchioto, Marianna, Fen Chien, Hsin, Olgiati, Simone, Boon, Agnita J W, Hoogers, Susanne E, Ghazvini, Mehrnaz, IJpma, Arne S, van IJcken, Wilfred F J, Nicholl, David J, Kievit, Anneke J, Majoor-Krakauer, Danielle, van Swieten, John C, de Jong, Frank J, Ferreira, Joaquim J, Cossu, Giovanni, and van de Berg, Wilma D J

Published
2018
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9. PARK14 (D331Y) PLA2G6 Causes Early-Onset Degeneration of Substantia Nigra Dopaminergic Neurons by Inducing Mitochondrial Dysfunction, ER Stress, Mitophagy Impairment and Transcriptional Dysregulation in a Knockin Mouse Model

Author

Chiu, Ching-Chi, Lu, Chin-Song, Weng, Yi-Hsin, Chen, Ying-Ling, Huang, Ying-Zu, Chen, Rou-Shayn, Cheng, Yi-Chuan, Huang, Yin-Cheng, Liu, Yu-Chuan, Lai, Szu-Chia, Lin, Kun-Jun, Lin, Yan-Wei, Chen, Yu-Jie, Chen, Chao-Lang, Yeh, Tu-Hsueh, and Wang, Hung-Li

Published
2019
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19. A recessive ataxia diagnosis algorithm for the next generation sequencing era

Author

Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, and Young, Millie

Published
2017
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21. Abnormal Bidirectional Plasticity-Like Effects in Parkinson's Disease

Author

Huang, Ying-Zu, Rothwell, John C., and Lu, Chin-Song

Abstract

Levodopa-induced dyskinesia is a major complication of long-term dopamine replacement therapy for Parkinson's disease that becomes increasingly problematic in advanced Parkinson's disease. Although the cause of levodopa-induced dyskinesias is still unclear, recent work in animal models of the corticostriatal system has suggested that levodopa-induced dyskinesias might result from abnormal control of synaptic plasticity. In the present study, we aimed to explore control of plasticity in patients with Parkinson's disease with and without levodopa-induced dyskinesias by taking advantage of a newly developed protocol that tests depotentiation of pre-existing long-term potentiation-like synaptic facilitation. Long-term potentiation-like plasticity and its reversibility were studied in the motor cortex of 10 healthy subjects, 10 patients with Parkinson's disease and levodopa-induced dyskinesias, who took half of the regular dose of levodopa and 10 patients with Parkinson's disease without levodopa-induced dyskinesias, who took either half or the full dose of levodopa. Patients with Parkinson's disease without levodopa-induced dyskinesias had normal long-term potentiation- and depotentiation-like effects when they took their full dose of levodopa, but there was no long-term potentiation-like effect when they were on half dose of levodopa. In contrast, patients with levodopa-induced dyskinesias could be successfully potentiated when they were on half their usual dose of levodopa; however, they were unresponsive to the depotentiation protocol. The results suggest that depotentiation is abnormal in the motor cortex of patients with Parkinson's disease with levodopa-induced dyskinesias and that their long-term potentiation-like plasticity is more readily affected by administration of levodopa than their clinical symptoms.

Published
2011
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24. Mutations in TMEM230 are not a common cause of Parkinsonʼs disease

Author

Quadri, Marialuisa, Breedveld, Guido J., Chang, Hsiu‐Chen, Yeh, Tu‐Hsueh, Guedes, Leonor Correia, Toni, Vincenzo, Fabrizio, Edito, De Mari, Michele, Thomas, Astrid, Tassorelli, Cristina, Rood, Janneke P.M.A., Saddi, Valeria, Chien, Hsin Fen, Kievit, Anneke J.A., Boon, Agnita J.W., Stocchi, Fabrizio, Lopiano, Leonardo, Abbruzzese, Giovanni, Cortelli, Pietro, Meco, Giuseppe, Cossu, Giovanni, Barbosa, Egberto Reis, Ferreira, Joaquim J., Lu, Chin‐Song, and Bonifati, Vincenzo

Published
2017
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25. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Author

Majounie, Elisa, Renton, Alan E, Mok, Kin, Dopper, Elise GP, Waite, Adrian, Rollinson, Sara, Chiò, Adriano, Restagno, Gabriella, Nicolaou, Nayia, Simon-Sanchez, Javier, van Swieten, John C, Abramzon, Yevgeniya, Johnson, Janel O, Sendtner, Michael, Pamphlett, Roger, Orrell, Richard W, Mead, Simon, Sidle, Katie C, Houlden, Henry, Rohrer, Jonathan D, Morrison, Karen E, Pall, Hardev, Talbot, Kevin, Ansorge, Olaf, Hernandez, Dena G, Arepalli, Sampath, Sabatelli, Mario, Mora, Gabriele, Corbo, Massimo, Giannini, Fabio, Calvo, Andrea, Englund, Elisabet, Borghero, Giuseppe, Floris, Gian Luca, Remes, Anne M, Laaksovirta, Hannu, McCluskey, Leo, Trojanowski, John Q, Van Deerlin, Vivianna M, Schellenberg, Gerard D, Nalls, Michael A, Drory, Vivian E, Lu, Chin-Song, Yeh, Tu-Hsueh, Ishiura, Hiroyuki, Takahashi, Yuji, Tsuji, Shoji, Le Ber, Isabelle, Brice, Alexis, Drepper, Carsten, Williams, Nigel, Kirby, Janine, Shaw, Pamela, Hardy, John, Tienari, Pentti J, Heutink, Peter, Morris, Huw R, Pickering-Brown, Stuart, and Traynor, Bryan J

Published
2012
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26. The effects of dual-task in patients with Parkinson’s disease performing cognitive-motor paradigms

Author

Chang Ya-Ju, Weng Yi-Hsin, Chang Hsiu-Chen, Chiou Wei-Da, Chen Chiung-Chu, Liaw Jiunn-Woei, and Lu Chin-Song

Subjects
Male, Levodopa, medicine.medical_specialty, Parkinson's disease, Walking, Task (project management), 03 medical and health sciences, Cognition, 0302 clinical medicine, Physical medicine and rehabilitation, Physiology (medical), Task Performance and Analysis, medicine, Humans, In patient, Effects of sleep deprivation on cognitive performance, Gait, Aged, business.industry, Parkinson Disease, General Medicine, Middle Aged, medicine.disease, Neurology, 030220 oncology & carcinogenesis, Facilitation, Female, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Patients with Parkinson’s disease (PD) exhibit impaired dual-task (DT) performance. A recent meta-analysis confirmed that dual tasking severely affects walking performance in PD patients. However, one report indicated that a cycling DT paradigm has facilitative effects on cognition. We investigated the effects of dual tasking by using walking and cycling as motor tasks and revealed the clinical determinants associated with DT performance. Twenty-seven eligible participants were enrolled for clinical, cognitive-walking, and cognitive-cycling DT paradigm investigations. The mean age and age at onset of the patients were 59.87 ± 6.3 and 53.11 ± 8.4 years, respectively. Both the off- and on-state akinesia subscores were worse on the more-affected side than on the less-affected side. However, the DT effects on the cycling and gait outcomes on both the more-affected and the less-affected side showed no significant differences. The DT effect on the two motor tasks and cognitive performance during a concurrent walking task declined. Nevertheless, the DT effect on cognition improved during cycling. The present study also revealed that the levodopa equivalent daily dosage was highly associated with cognitive-cycling performance and that the akinesia subscore was the most relevant factor that contributed to cognitive-walking performance. In conclusion, DT facilitation or interference might be mediated by the type of motor task applied. The cognitive-cycling DT paradigm had a facilitative effect on cognition. Cycling exercise may diminish motor dysfunction has been investigated. We suggest that cognitive-cycling DT training is a potential adjuvant therapeutic strategy for patients with PD to promote motor and cognitive functions.

Published
2020

31. PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia–parkinsonism type 14 and can be relieved by DHA treatment in animal models

Author

Yeh, Tu-Hsueh, primary, Liu, Han-Fang, additional, Chiu, Ching-Chi, additional, Cheng, Mei-Ling, additional, Huang, Guo-Jen, additional, Huang, Yin-Cheng, additional, Liu, Yu-Chien, additional, Huang, Ying-Zu, additional, Lu, Chin-Song, additional, Chen, Yi-Chieh, additional, Chen, Hao-Yuan, additional, and Cheng, Yi-Chuan, additional

Published
2021
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