Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

Autor: Aziz, Na, Jurgens, Ck, Landwehrmeyer, Gb, Ehdn, Rsg, van Roon Mom, Wm, van Ommen, Gj, Stijnen, T, Roos, Ra, Bachoud Levi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, J, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Rojo Sebastian, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Schwenke, C, Orth, M, Wallner, M, Barth, K, Bascunana Garde, M, Ros, R, Ecker, D, Heinonen, N, Held, C, Laura, M, Martinez Descals, A, Mestre, T, Monza, D, Naji, J, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes Ane, Mn, Zielonka, D, Bonelli, Rm, Herranhof, B, Hodl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribai, P, Van Reijen, D, Hasholt, L, Hjermind, Le, Jakobsen, O, Norremolle, A, Sorensen, Sa, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, Cm, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Priller, J, Prüb, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strabburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beuster, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, Giovanni, Bandettini di Poggio, M, Ferrandes, G, Mandes, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, Dm, De michele, G, Rinaldi, C, Salvatore, E, Tucci, T, Ciarmiello, A, Martino, T, Simonelli, M, Squitieri, F, Fasano, A, Frontali, M, Guidubaldi, A, Lalongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, van Walsem, Mr, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Sando, Sb, Sitek, Ej, Slawek, J, Soltan, W, Rudzinska, M, Szczudlik, A, Wójcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempolowicz, Pj, Zielona, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Rakowicz, M, Richter, P, Ryglewicz, D, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, Jj, Rosa, Mm, Valadas, A, Gago, M, Garrett, C, Guerra, Mr, Bas, J, Calopa, M, Barberà, Ma, Badenes, D, Casas, L, Arroyo, Se, Vara, Jh, Krupinski, J, López, J, Obdulia, M, Ferrer, Pq, Sebastián, Ar, Contreras, Sr, Carruesco, Gt, Cubo, E, Mariscal, N, Sánchez, J, Barrero, Fj, Morales, B, Garcia Ramos Garcia, R, Pin Quiroga, P, Villanueva, C, Ruiz Espiga, Pj, Martinez, A, Saiz Artiga, Mj, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, Gg, de Yébenes, Jg, López Moreno, Jl, Schwarz, C, Cubillo, Pt, Arques, Pn, Gorospe, A, Legarda, I, Rodriguez, Mj, Gaston, I, Ramos Arroyo, Ma, del Val, Jl, Martinez, L, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, Ms, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, Ra, Fisher, K, Goyder Goodman, Ao, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Price, K, Rosser, A, Edwards, M, De Sousa, Pa, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomas, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Craufurd, D, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, Ah, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, Tidswell, K., Mandich, Paola

OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28506b686f5265528cb2e1c5f617069d
http://hdl.handle.net/11573/559244

Family Functioning, Maternal Depression, and Adolescent Cognitive Flexibility and Its Associations with Adolescent Depression: A Cross-Sectional Study.

Autor: Urbańska-Grosz J; Rehabilitation Department of Child and Adolescent Psychiatry, Gdansk Health Center, 80-542 Gdansk, Poland.; Laboratory of Clinical Neuropsychology, Neurolinguistics and Neuropsychotherapy, Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-952 Gdansk, Poland., Sitek EJ; Rehabilitation Department of Child and Adolescent Psychiatry, Gdansk Health Center, 80-542 Gdansk, Poland.; Laboratory of Clinical Neuropsychology, Neurolinguistics and Neuropsychotherapy, Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-952 Gdansk, Poland.; Department of Neurology, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland., Pakalska A; Rehabilitation Department of Child and Adolescent Psychiatry, Gdansk Health Center, 80-542 Gdansk, Poland., Pietraszczyk-Kędziora B; Rehabilitation Department of Child and Adolescent Psychiatry, Gdansk Health Center, 80-542 Gdansk, Poland., Skwarska K; Rehabilitation Department of Child and Adolescent Psychiatry, Gdansk Health Center, 80-542 Gdansk, Poland., Walkiewicz M; Rehabilitation Department of Child and Adolescent Psychiatry, Gdansk Health Center, 80-542 Gdansk, Poland.; Division of Quality of Life Research, Department of Psychology, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland.

Publikováno v: Children (Basel, Switzerland) [Children (Basel)] 2024 Jan 22; Vol. 11 (1). Date of Electronic Publication: 2024 Jan 22.

Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments.

Autor: Horta-Barba A; Department of Medicine, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.; Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; European Huntington's Disease Network (EHDN), Ulm, Germany., Martinez-Horta S; Department of Medicine, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.; Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; European Huntington's Disease Network (EHDN), Ulm, Germany., Pérez-Pérez J; Department of Medicine, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.; Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; European Huntington's Disease Network (EHDN), Ulm, Germany., Puig-Davi A; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.; Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; European Huntington's Disease Network (EHDN), Ulm, Germany., de Lucia N; European Huntington's Disease Network (EHDN), Ulm, Germany.; University of Naples 'Federico II', Naples, Italy., de Michele G; European Huntington's Disease Network (EHDN), Ulm, Germany.; University of Naples 'Federico II', Naples, Italy., Salvatore E; European Huntington's Disease Network (EHDN), Ulm, Germany.; University of Naples 'Federico II', Naples, Italy., Kehrer S; European Huntington's Disease Network (EHDN), Ulm, Germany.; Department of Neuropsychiatry, Charité-Universitätsmedizin, Berlin, Germany., Priller J; European Huntington's Disease Network (EHDN), Ulm, Germany.; Department of Neuropsychiatry, Charité-Universitätsmedizin, Berlin, Germany., Migliore S; Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza Research Hospital, San Giovanni Rotondo, Italy., Squitieri F; Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza Research Hospital, San Giovanni Rotondo, Italy., Castaldo A; European Huntington's Disease Network (EHDN), Ulm, Germany.; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mariotti C; European Huntington's Disease Network (EHDN), Ulm, Germany.; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mañanes V; European Huntington's Disease Network (EHDN), Ulm, Germany.; Department of Neurology, Hospital Universitario Ramon Y Cajal, Madrid, Spain., Lopez-Sendon JL; European Huntington's Disease Network (EHDN), Ulm, Germany.; Department of Neurology, Hospital Universitario Ramon Y Cajal, Madrid, Spain., Rodriguez N; European Huntington's Disease Network (EHDN), Ulm, Germany.; Department of Neurology, Fundación Jimenez Diaz, Madrid, Spain., Martinez-Descals A; European Huntington's Disease Network (EHDN), Ulm, Germany.; Department of Neurology, Fundación Jimenez Diaz, Madrid, Spain., Júlio F; European Huntington's Disease Network (EHDN), Ulm, Germany.; Coimbra Institute for Biomedical Imaging and Translational Research-CIBIT, University of Coimbra, Coimbra, Portugal.; Neurology Department, Coimbra University Hospital, Coimbra, Portugal., Januário C; European Huntington's Disease Network (EHDN), Ulm, Germany.; Coimbra Institute for Biomedical Imaging and Translational Research-CIBIT, University of Coimbra, Coimbra, Portugal.; Neurology Department, Coimbra University Hospital, Coimbra, Portugal., Delussi M; European Huntington's Disease Network (EHDN), Ulm, Germany.; Applied Neurophysiology and Pain Unit, Apulian Center for Huntington's Disease SMBNOS Department, 'Aldo Moro' University, Bari, Italy., de Tommaso M; European Huntington's Disease Network (EHDN), Ulm, Germany.; Applied Neurophysiology and Pain Unit, Apulian Center for Huntington's Disease SMBNOS Department, 'Aldo Moro' University, Bari, Italy., Noguera S; European Huntington's Disease Network (EHDN), Ulm, Germany.; Hospital Mare de Deu de La Mercè, Barcelona, Spain., Ruiz-Idiago J; European Huntington's Disease Network (EHDN), Ulm, Germany.; Hospital Mare de Deu de La Mercè, Barcelona, Spain., Sitek EJ; European Huntington's Disease Network (EHDN), Ulm, Germany.; Department of Neurological and Psychiatric Nursing, Faculty of Health Science Medical, University of Gdansk, Gdańsk, Poland.; Department of Neurology, St. Adalbert Hospital, Copernicus, Gdańsk, Poland., Wallner R; Department of Psychiatry, Medical University of Wroclaw, Wroclaw, Poland., Nuzzi A; European Huntington's Disease Network (EHDN), Ulm, Germany., Pagonabarraga J; Department of Medicine, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain.; Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; European Huntington's Disease Network (EHDN), Ulm, Germany., Kulisevsky J; Department of Medicine, Autonomous University of Barcelona (UAB), Bellaterra, Spain. jkulisevsky@santpau.cat.; Movement Disorders Unit, Neurology Department, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain. jkulisevsky@santpau.cat.; Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain. jkulisevsky@santpau.cat.; Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. jkulisevsky@santpau.cat.; European Huntington's Disease Network (EHDN), Ulm, Germany. jkulisevsky@santpau.cat.

Publikováno v: Journal of neurology [J Neurol] 2023 Nov; Vol. 270 (11), pp. 5408-5417. Date of Electronic Publication: 2023 Jul 18.

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B , SETX , SORL1 , and FOXP1 Genes.

Autor: Gaweda-Walerych K; Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland., Sitek EJ; Laboratory of Clinical Neuropsychology, Neurolinguistics and Neuropsychotherapy, Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-211 Gdansk, Poland.; Neurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland., Borczyk M; Laboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland., Narożańska E; Neurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland., Brockhuis B; Department of Nuclear Medicine, Faculty of Health Sciences, Medical University of Gdansk, 80-214 Gdansk, Poland., Korostyński M; Laboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland., Schinwelski M; Neurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.; Neurocentrum Miwomed, 80-207 Gdansk, Poland.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-211 Gdansk, Poland., Siemiński M; Department of Emergency Medicine, Faculty of Health Sciences, Medical University of Gdansk, 80-210 Gdansk, Poland., Sławek J; Neurology Department, St. Adalbert Hospital, Copernicus PL, 80-462 Gdansk, Poland.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, 80-211 Gdansk, Poland., Zekanowski C; Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.

Publikováno v: Genes [Genes (Basel)] 2022 Dec 14; Vol. 13 (12). Date of Electronic Publication: 2022 Dec 14.

The Impact of Subthalamic Deep Brain Stimulation on Restless Legs Syndrome in Parkinson's Disease.

Autor: Dulski J; Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL, Gdansk, Poland. Electronic address: jaroslaw.dulski@gumed.edu.pl., Wąż P; Department of Nuclear Medicine, Faculty of Health Sciences, Medical University of Gdańsk, Gdansk, Poland., Konkel A; Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL, Gdansk, Poland., Grabowski K; Adult Psychiatry Clinic, Faculty of Medicine, Medical University of Gdansk, Gdansk, Poland., Libionka W; Neurosurgery Department, Copernicus PL, Gdansk, Poland; Department of Neurobiology of Muscle, Faculty of Rehabilitation and Kinesiology, Gdansk University of Physical Education and Sport, Gdansk, Poland., Schinwelski M; Neurocentrum-MiwoMed - Neurological Clinic, Gdansk, Poland., Sitek EJ; Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL, Gdansk, Poland., Sławek J; Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL, Gdansk, Poland.

Publikováno v: Neuromodulation : journal of the International Neuromodulation Society [Neuromodulation] 2022 Aug; Vol. 25 (6), pp. 904-910. Date of Electronic Publication: 2022 Jun 14.