Search

Your search keyword '"Reilmann, Ralf"' showing total 583 results
Start Over Author "Reilmann, Ralf"
583 results on '"Reilmann, Ralf"'

1. Evaluation of walking activity and gait to identify physical and mental fatigue in neurodegenerative and immune disorders: preliminary insights from the IDEA-FAST feasibility study

Author

Hinchliffe, Chloe, Rehman, Rana Zia Ur, Pinaud, Clemence, Branco, Diogo, Jackson, Dan, Ahmaniemi, Teemu, Guerreiro, Tiago, Chatterjee, Meenakshi, Manyakov, Nikolay V., Pandis, Ioannis, Davies, Kristen, Macrae, Victoria, Aufenberg, Svenja, Paulides, Emma, Hildesheim, Hanna, Kudelka, Jennifer, Emmert, Kirsten, Van Gassen, Geert, Rochester, Lynn, van der Woude, C. Janneke, Reilmann, Ralf, Maetzler, Walter, Ng, Wan-Fai, and Del Din, Silvia

Published
2024
Full Text
View/download PDF

4. Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study

Author

Guttman, Mark, Raymond, Lynn, Mendis, Tilak, Suchowersky, Oksana, Corey-Bloom, Jody, Geschwind, Michael D, Marshall, Frederick J, Marder, Karen S, Nance, Martha, Racette, Brad, Bang, Jee, Segro, Victoria, McDonell, Katherine, Kamholz, John, LeDoux, Mark S, Sanchez-Ramos, Juan, DeMichele, Giuseppe, Mariotti, Caterina, Squitieri, Ferdinando, Soliveri, Paola, Cortelli, Pietro, Muñoz García, José Esteban, Kulisevsky Bojarski, Jaime, López-Sendón Moreno, José Luis, Berganzo Corrales, Koldo, Cubo, Esther, García Moreno, José Manuel, Orth, Michael, Priller, Josef, Saft, Carsten, Weindl, Adolf, Winkler, Juergen, Craufurd, David, Miedzybrodzka, Zofia, Rickards, Hugh, Davies, Rhys Richard, Lahiri, Nayana, Ruddy, Deborah, Komati, Suresh K, Quarrell, Oliver William John, Correira Guedes, Leonor, Roos, Raymund A C, Zalyalova, Zuleykha, Illarioshkin, Sergey, Gustov, Aleksandr, Klempir, Jiri, Reilmann, Ralf, Anderson, Karen E, Feigin, Andrew, Tabrizi, Sarah J, Leavitt, Blair R, Stout, Julie C, Piccini, Paola, Schubert, Robin, Loupe, Pippa, Wickenberg, Anna, Borowsky, Beth, Rynkowski, Gail, Volkinshtein, Rita, Li, Thomas, Savola, Juha-Matti, Hayden, Michael, and Gordon, Mark Forrest

Published
2024
Full Text
View/download PDF

5. Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease

Author

Claassen, Daniel O, Corey-Bloom, Jody, Dorsey, E Ray, Edmondson, Mary, Kostyk, Sandra K, LeDoux, Mark S, Reilmann, Ralf, Rosas, H Diana, Walker, Francis, Wheelock, Vicki, Svrzikapa, Nenad, Longo, Kenneth A, Goyal, Jaya, Hung, Serena, and Panzara, Michael A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Huntington's Disease, Rare Diseases, Neurodegenerative, Neurosciences, Clinical sciences
Abstract

BackgroundThe huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments.ObjectiveThis prospective observational study defined the frequency at which rs362307 (SNP1) or rs362331 (SNP2) was found on the same allele with pathogenic CAG expansions.MethodsAcross 7 US sites, 202 individuals with HD provided blood samples that were processed centrally to determine the number and size of CAG repeats, presence and heterozygosity of SNPs, and whether SNPs were present on the mutant HTT allele using long-read sequencing and phasing.ResultsHeterozygosity of SNP1 and/or SNP2 was identified in 146 (72%) individuals. The 2 polymorphisms were associated only with the mHTT allele in 61% (95% high density interval: 55%, 67%) of individuals.ConclusionsThese results are consistent with previous reports and demonstrate the feasibility of genotyping, phasing, and targeting of HTT SNPs for personalized treatment of HD.

Published
2020

7. Physical activity and exercise outcomes in Huntington's disease (PACE-HD): results of a 12-month trial-within-cohort feasibility study of a physical activity intervention in people with Huntington's disease

Author

Montojo, Teresa, Ruiz Idiago, Jesus Miguel, Hershberg, Julie, Marder, Karen, Bordelon, Yvette, Reilmann, Ralf, Reetz, Kathrin, Landwehrmeyer, Bernhard, Quinn, Lori, Playle, Rebecca, Drew, Cheney J.G., Taiyari, Katie, Williams-Thomas, Rhys, Muratori, Lisa M., Hamana, Katy, Griffin, Beth Ann, Kelson, Mark, Schubert, Robin, Friel, Ciaran, Morgan-Jones, Philippa, Rosser, Anne, and Busse, Monica

Published
2022
Full Text
View/download PDF

8. Tracking Longitudinal Change In Presymptomatic Genetic Prion Disease (S28.008)

Author

Zhou, Guoyu, primary, Driscoll, Theresa, additional, Nandi, Supratik, additional, Cho, Kolette, additional, Terranova, Michael, additional, O’Leary, Kelly, additional, Metcalf, Stacy, additional, Casey, Megan, additional, Forner, Sven, additional, Schubert, Robin, additional, Reilmann, Ralf, additional, Kuo, Amy, additional, Benisaro, Kendra, additional, Golubjatnikov, Aili, additional, Wong, Katherine, additional, and Geschwind, Michael, additional

Published
2024
Full Text
View/download PDF

9. Analyses of the Phase 3 Trial of Pridopidine’s Outcome on Function in Huntington Disease (PROOF-HD) Demonstrates Efficacy in Participants Without Antidopaminergic Medications (S30.002)

Author

Geva, Michal, primary, Reilmann, Ralf, additional, Feigin, Andrew, additional, Rosser, Anne, additional, Kostyk, Sandra, additional, Chen, Kelly, additional, Mehra, Munish, additional, Cohen, Yael, additional, Goldberg, Paul, additional, and Hayden, Michael, additional

Published
2024
Full Text
View/download PDF

12. Evaluation of walking activity and gait to identify physical and mental fatigue in neurodegenerative and immune disorders:preliminary insights from the IDEA-FAST feasibility study

Author

Hinchliffe, Chloe, Rehman, Rana Zia Ur, Pinaud, Clemence, Branco, Diogo, Jackson, Dan, Ahmaniemi, Teemu, Guerreiro, Tiago, Chatterjee, Meenakshi, Manyakov, Nikolay V., Pandis, Ioannis, Davies, Kristen, Macrae, Victoria, Aufenberg, Svenja, Paulides, Emma, Hildesheim, Hanna, Kudelka, Jennifer, Emmert, Kirsten, Van Gassen, Geert, Rochester, Lynn, van der Woude, C. Janneke, Reilmann, Ralf, Maetzler, Walter, Ng, Wan Fai, Del Din, Silvia, Hinchliffe, Chloe, Rehman, Rana Zia Ur, Pinaud, Clemence, Branco, Diogo, Jackson, Dan, Ahmaniemi, Teemu, Guerreiro, Tiago, Chatterjee, Meenakshi, Manyakov, Nikolay V., Pandis, Ioannis, Davies, Kristen, Macrae, Victoria, Aufenberg, Svenja, Paulides, Emma, Hildesheim, Hanna, Kudelka, Jennifer, Emmert, Kirsten, Van Gassen, Geert, Rochester, Lynn, van der Woude, C. Janneke, Reilmann, Ralf, Maetzler, Walter, Ng, Wan Fai, and Del Din, Silvia

Abstract

Background: Many individuals with neurodegenerative (NDD) and immune-mediated inflammatory disorders (IMID) experience debilitating fatigue. Currently, assessments of fatigue rely on patient reported outcomes (PROs), which are subjective and prone to recall biases. Wearable devices, however, provide objective and reliable estimates of gait, an essential component of health, and may present objective evidence of fatigue. This study explored the relationships between gait characteristics derived from an inertial measurement unit (IMU) and patient-reported fatigue in the IDEA-FAST feasibility study. Methods: Participants with IMIDs and NDDs (Parkinson's disease (PD), Huntington's disease (HD), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), primary Sjogren’s syndrome (PSS), and inflammatory bowel disease (IBD)) wore a lower-back IMU continuously for up to 10 days at home. Concurrently, participants completed PROs (physical fatigue (PF) and mental fatigue (MF)) up to four times a day. Macro (volume, variability, pattern, and acceleration vector magnitude) and micro (pace, rhythm, variability, asymmetry, and postural control) gait characteristics were extracted from the accelerometer data. The associations of these measures with the PROs were evaluated using a generalised linear mixed-effects model (GLMM) and binary classification with machine learning. Results: Data were recorded from 72 participants: PD = 13, HD = 9, RA = 12, SLE = 9, PSS = 14, IBD = 15. For the GLMM, the variability of the non-walking bouts length (in seconds) with PF returned the highest conditional R2, 0.165, and with MF the highest marginal R2, 0.0018. For the machine learning classifiers, the highest accuracy of the current analysis was returned by the micro gait characteristics with an intrasubject cross validation method and MF as 56.90% (precision = 43.9%, recall = 51.4%). Overall, the acceleration vector magnitude, bout length variation, postural control, and gait rhythm were

Published
2024

14. Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study

Author

Reilmann, Ralf, primary, Anderson, Karen E, additional, Feigin, Andrew, additional, Tabrizi, Sarah J, additional, Leavitt, Blair R, additional, Stout, Julie C, additional, Piccini, Paola, additional, Schubert, Robin, additional, Loupe, Pippa, additional, Wickenberg, Anna, additional, Borowsky, Beth, additional, Rynkowski, Gail, additional, Volkinshtein, Rita, additional, Li, Thomas, additional, Savola, Juha-Matti, additional, Hayden, Michael, additional, Gordon, Mark Forrest, additional, Guttman, Mark, additional, Raymond, Lynn, additional, Mendis, Tilak, additional, Suchowersky, Oksana, additional, Corey-Bloom, Jody, additional, Geschwind, Michael D, additional, Marshall, Frederick J, additional, Marder, Karen S, additional, Nance, Martha, additional, Racette, Brad, additional, Bang, Jee, additional, Segro, Victoria, additional, McDonell, Katherine, additional, Kamholz, John, additional, LeDoux, Mark S, additional, Sanchez-Ramos, Juan, additional, DeMichele, Giuseppe, additional, Mariotti, Caterina, additional, Squitieri, Ferdinando, additional, Soliveri, Paola, additional, Cortelli, Pietro, additional, Muñoz García, José Esteban, additional, Kulisevsky Bojarski, Jaime, additional, López-Sendón Moreno, José Luis, additional, Berganzo Corrales, Koldo, additional, Cubo, Esther, additional, García Moreno, José Manuel, additional, Orth, Michael, additional, Priller, Josef, additional, Saft, Carsten, additional, Weindl, Adolf, additional, Winkler, Juergen, additional, Craufurd, David, additional, Miedzybrodzka, Zofia, additional, Rickards, Hugh, additional, Davies, Rhys Richard, additional, Lahiri, Nayana, additional, Ruddy, Deborah, additional, Komati, Suresh K, additional, Quarrell, Oliver William John, additional, Correira Guedes, Leonor, additional, Roos, Raymund A C, additional, Zalyalova, Zuleykha, additional, Illarioshkin, Sergey, additional, Gustov, Aleksandr, additional, and Klempir, Jiri, additional

Published
2024
Full Text
View/download PDF

15. Technology in Parkinson's disease: Challenges and opportunities

Author

Espay, Alberto J, Bonato, Paolo, Nahab, Fatta B, Maetzler, Walter, Dean, John M, Klucken, Jochen, Eskofier, Bjoern M, Merola, Aristide, Horak, Fay, Lang, Anthony E, Reilmann, Ralf, Giuffrida, Joe, Nieuwboer, Alice, Horne, Malcolm, Little, Max A, Litvan, Irene, Simuni, Tanya, Dorsey, E Ray, Burack, Michelle A, Kubota, Ken, Kamondi, Anita, Godinho, Catarina, Daneault, Jean‐Francois, Mitsi, Georgia, Krinke, Lothar, Hausdorff, Jeffery M, Bloem, Bastiaan R, Papapetropoulos, Spyros, and Technology, on behalf of the Movement Disorders Society Task Force on

Subjects
Parkinson's Disease, Bioengineering, Clinical Research, Neurodegenerative, Aging, Neurosciences, Brain Disorders, Networking and Information Technology R&D (NITRD), 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Neurological, Biomedical Technology, Humans, Parkinson Disease, digital health, digital biomarkers, eHealth, Parkinson's disease, precision medicine, remote monitoring, technology, wearable technology, Movement Disorders Society Task Force on Technology, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

The miniaturization, sophistication, proliferation, and accessibility of technologies are enabling the capture of more and previously inaccessible phenomena in Parkinson's disease (PD). However, more information has not translated into a greater understanding of disease complexity to satisfy diagnostic and therapeutic needs. Challenges include noncompatible technology platforms, the need for wide-scale and long-term deployment of sensor technology (among vulnerable elderly patients in particular), and the gap between the "big data" acquired with sensitive measurement technologies and their limited clinical application. Major opportunities could be realized if new technologies are developed as part of open-source and/or open-hardware platforms that enable multichannel data capture sensitive to the broad range of motor and nonmotor problems that characterize PD and are adaptable into self-adjusting, individualized treatment delivery systems. The International Parkinson and Movement Disorders Society Task Force on Technology is entrusted to convene engineers, clinicians, researchers, and patients to promote the development of integrated measurement and closed-loop therapeutic systems with high patient adherence that also serve to (1) encourage the adoption of clinico-pathophysiologic phenotyping and early detection of critical disease milestones, (2) enhance the tailoring of symptomatic therapy, (3) improve subgroup targeting of patients for future testing of disease-modifying treatments, and (4) identify objective biomarkers to improve the longitudinal tracking of impairments in clinical care and research. This article summarizes the work carried out by the task force toward identifying challenges and opportunities in the development of technologies with potential for improving the clinical management and the quality of life of individuals with PD. © 2016 International Parkinson and Movement Disorder Society.

Published
2016

18. Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study

Author

Agarwal, Pinky, Anderson, Karen E, Aziz, Nasir A, Azulay, Jean-Phillippe, Bachoud-Levi, Anne C, Barker, Roger, Bebak, Agnieszka, Beuth, Markus, Biglan, Kevin, Blin, Stephanie, Bohlen, Stefan, Bonelli, Raphael, Caldwell, Sue, Calvas, Fabienne, Carlos, Jonielyn, Castagliuolo, Simona, Chong, Terrence, Chua, Phyllis, Coleman, Allison, Corey-Bloom, Jody, Cousins, Rebecca, Craufurd, David, Davison, Jill, Decorte, Eric, De Michele, Giuseppe, Dornhege, Laura, Feigin, Andrew, Gallehawk, Stephanie, Gauteul, Pascale, Gonzales, Carey, Griffith, Jane, Gustov, Alexander, Guttman, Mark, Heim, Beatrix, Heller, Hope, Hjermind, Lena, Illarioshkin, Sergey, Ivanko, Larry, Jaynes, Jessica, Jenckes, Mollie, Kaminski, Barbara, Kampstra, Anne, Konkel, Agnieszka, Kopishinskaya, Svetlana, Krystkowiak, Pierre, Komati, Suresh K, Kwako, Alexander, Lakoning, Stefan, Latipova, Guzal, Leavitt, Blair, Loy, Clement, MacFarlane, Cheryl, Madsen, Louise, Marder, Karen, Mason, Sarah, Mendis, Neila, Mendis, Tilak, Nemeth, Andrea, Nevitt, Louise, Norris, Virginia, O'Neill, Christine, Olivier, Audrey, Orth, Michael, Owens, Ashley, Panegyres, Peter, Perlman, Susan, Preston, Joy, Priller, Josef, Puch, Alicja, Quarrell, Oliver, Ragosta, Domenica, Rialland, Amandine, Rickards, Hugh, Romoli, Anna M, Ross, Christopher, Rosser, Anne, Rudzinska, Monika, Russo, Cinzina V, Saft, Carsten, Segro, Victoria, Seppi, Klaus, Shannon, Barbara, Shprecher, David, Simonin, Clemence, Skitt, Zara, Slawek, Jaroslaw, Soliveri, Paola, Sorbi, Sandro, Squitieri, Ferdinando, Suski, Valarie, Stepniak, Iwona, Sungmee, Park, Temirbaeva, Sofia, Testa, Claudia, Torvin-Moller, Anette, Uhl, Stefanie, Vangsted-Hansen, Christina, Verny, Christophe, Wall, Paola, Walker, Francis, Wasserman, Paula, Witkowski, Grzegorz, Wright, Jan, Zalyalova, Zuleykha, Zielonka, Daniel, Reilmann, Ralf, McGarry, Andrew, Grachev, Igor D, Savola, Juha-Matti, Borowsky, Beth, Eyal, Eli, Gross, Nicholas, Langbehn, Douglas, Schubert, Robin, Wickenberg, Anna Teige, Papapetropoulos, Spyros, Hayden, Michael, Kieburtz, Karl, and Landwehrmeyer, G Bernhard

Published
2019
Full Text
View/download PDF

19. Clinical Review of Juvenile Huntington's Disease.

Author

Oosterloo, Mayke, Touze, Alexiane, Byrne, Lauren M., Achenbach, Jannis, Aksoy, Hande, Coleman, Annabelle, Lammert, Dawn, Nance, Martha, Nopoulos, Peggy, Reilmann, Ralf, Saft, Carsten, Santini, Helen, Squitieri, Ferdinando, Tabrizi, Sarah, Burgunder, Jean-Marc, and Quarrell, Oliver

Subjects
HUNTINGTON disease, ATTENTION-deficit hyperactivity disorder, DELAYED diagnosis, AUTISM spectrum disorders, COGNITION disorders
Abstract

Juvenile Huntington's disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington's disease (AOHD). Cognitive decline is mostly detected by declining school performances. Behavioral symptoms in general do not differ from AOHD but may be confused with autism spectrum disorder or attention deficit hyperactivity disorder and lead to misdiagnosis and/or diagnostic delay. JHD specific features are epilepsy, ataxia, spasticity, pain, itching, and possibly liver steatosis. Disease progression of JHD is faster compared to AOHD and the disease duration is shorter, particularly in case of higher CAG repeat lengths. The diagnosis is based on clinical judgement in combination with a positive family history and/or DNA analysis after careful consideration. Repeat length in JHD is usually > 55 and caused by anticipation, usually via paternal transmission. There are no pharmacological and multidisciplinary guidelines for JHD treatment. Future perspectives for earlier diagnosis are better diagnostic markers such as qualitative MRI and neurofilament light in serum. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

20. Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.

Author

Penkl, Maximilian, Mayr, Johannes A., Feichtinger, René G., Reilmann, Ralf, Debus, Otfried, Fobker, Manfred, Penkl, Anja, Reunert, Janine, Rust, Stephan, and Marquardt, Thorsten

Subjects
KREBS cycle, CEREBRAL atrophy, OPTIC nerve, MOTOR ability, DELETION mutation
Abstract

Citric acid cycle deficiencies are extremely rare due to their central role in energy metabolism. The ACO2 gene encodes the mitochondrial isoform of aconitase (aconitase 2), the second enzyme of the citric acid cycle. Approximately 100 patients with aconitase 2 deficiency have been reported with a variety of symptoms, including intellectual disability, hypotonia, optic nerve atrophy, cortical atrophy, cerebellar atrophy, and seizures. In this study, a homozygous deletion in the ACO2 gene in two brothers with reduced aconitase 2 activity in fibroblasts has been described with symptoms including truncal hypotonia, optic atrophy, hyperopia, astigmatism, and cerebellar atrophy. In an in vivo trial, triheptanoin was used to bypass the defective aconitase 2 and fill up the citric acid cycle. Motor abilities in both patients improved. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

22. Identification of Fatigue and Sleepiness in Immune and Neurodegenerative Disorders from Measures of Real-World Gait Variability

Author

Hinchliffe, Chloe, primary, Rehman, Rana Zia Ur, additional, Branco, Diogo, additional, Jackson, Dan, additional, Ahmaniemi, Teemu, additional, Guerreiro, Tiago, additional, Chatterjee, Meenakshi, additional, Manyakov, Nikolay V., additional, Pandis, Ioannis, additional, Davies, Kristen, additional, Macrae, Victoria, additional, Aufenberg, Svenja, additional, Paulides, Emma, additional, Hildesheim, Hanna, additional, Kudelka, Jennifer, additional, Emmert, Kirsten, additional, Van Gassen, Geert, additional, Rochester, Lynn, additional, van der Woude, C. Janneke, additional, Reilmann, Ralf, additional, Maetzler, Walter, additional, Ng, Wan-Fai, additional, and Din, Silvia Del, additional

Published
2023
Full Text
View/download PDF

24. Physical Activity and Exercise Outcomes in Huntington Disease (PACE-HD): Protocol for a 12-Month Trial Within Cohort Evaluation of a Physical Activity Intervention in People With Huntington Disease

Author

Drew, Cheney J.C., Quinn, Lori, Hamana, Katy, Williams-Thomas, Rhys, Marsh, Lucy, Dimitropoulou, Polyxeni, Playle, Rebecca, Griffin, Beth Ann, Kelson, Mark, Schubert, Robin, Muratori, Lisa, Reilmann, Ralf, Rosser, Anne, and Busse, Monica

Subjects
Fitbit Inc., Physical fitness -- Comparative analysis, Huntington's disease -- Comparative analysis, Consumer electronics industry -- Comparative analysis, Nervous system diseases -- Comparative analysis, High definition television -- Comparative analysis, Exercise -- Comparative analysis, Walking, Incorporation, Physical therapists, Batteries, Clinical trials, Consumer electronics industry, High-definition television, Health, Cardiff University
Abstract

Background. Exercise is emerging as an important aspect in the management of disease-related symptoms and functional decline in people with Huntington disease (HD). Long-term evaluation of physical activity and exercise participation in HD has yet to be undertaken. Objective. The objective is to investigate the feasibility of a nested randomized controlled trial (RCT) alongside a longitudinal observational study of physical activity and exercise outcomes in people with HD. Design. This will be a 12-month longitudinal observational study (n = 120) with a nested evaluation of a physical activity intervention (n = 30) compared with usual activity (n = 30) using a 'trial within a cohort' design. Setting. The study will take place in HD specialist clinics in Germany, Spain, and the United States, with intervention delivery in community settings. Participants. The participants will have early-mid--stage HD and be participating in the Enroll-HD study. Intervention. This will be a 12-month physical activity behavioral change intervention, delivered by physical therapists in 18 sessions, targeting uptake of aerobic exercise and increased physical activity. Measurements. All participants (n = 120) will complete Enroll-HD assessments (motor, cognitive, behavioral, and quality of life) at baseline and at 12 months. Additional Physical Activity and Exercise Outcomes in Huntington Disease (PACE-HD) assessments include fitness (predicted maximal oxygen uptake [[Vo.sub.2max]]), self-reported and quantitative measures of physical activity, disease-specific symptoms, and walking endurance. RCT participants (n = 60) will complete an additional battery of quantitative motor assessments and a 6-month interim assessment. Enroll-HD data will be linked to PACE-HD physical activity and fitness data. Limitations. The limitations include that the embedded RCT is open, and assessors at RCT sites are not blinded to participant allocation. Conclusion. PACE-HD will enable determination of the feasibility of long-term physical activity interventions in people with HD. The novel 'trial within a cohort' design and incorporation of data linkage have potential to reduce participant burden. This design could be applied to other neurological diseases and movement disorders where recruitment and retention are challenging., Huntington Disease (HD) is an inherited neurodegenerative disease resulting in the loss of striatal neurons leading to disruption of corticostriatal pathways. HD is characterized by progressive deficits in cognition, behavior, [...]

Published
2019
Full Text
View/download PDF

25. A new approach to digitized cognitive monitoring: validity of the SelfCog in Huntington’s disease

Author

Lunven, Marine, primary, Hernandez Dominguez, Karen, additional, Youssov, Katia, additional, Hamet Bagnou, Jennifer, additional, Fliss, Rafika, additional, Vandendriessche, Henri, additional, Bapst, Blanche, additional, Morgado, Graça, additional, Remy, Philippe, additional, Schubert, Robin, additional, Reilmann, Ralf, additional, Busse, Monica, additional, Craufurd, David, additional, Massart, Renaud, additional, Rosser, Anne, additional, and Bachoud-Lévi, Anne-Catherine, additional

Published
2023
Full Text
View/download PDF

26. A PET-CT study on neuroinflammation in Huntington’s disease patients participating in a randomized trial with laquinimod

Author

Roussakis, Andreas-Antonios, primary, Gennaro, Marta, additional, Gordon, Mark Forrest, additional, Reilmann, Ralf, additional, Borowsky, Beth, additional, Rynkowski, Gail, additional, Lao-Kaim, Nicholas P, additional, Papoutsou, Zoe, additional, Savola, Juha-Matti, additional, Hayden, Michael R, additional, Owen, David R, additional, Kalk, Nicola, additional, Lingford-Hughes, Anne, additional, Gunn, Roger N, additional, Searle, Graham, additional, Tabrizi, Sarah J, additional, and Piccini, Paola, additional

Published
2023
Full Text
View/download PDF

27. Differential diagnosis of chorea (guidelines of the German Neurological Society)

Author

Saft, Carsten; https://orcid.org/0000-0002-3983-7292, Burgunder, Jean-Marc, Dose, Matthias, Jung, Hans Heinrich, Katzenschlager, Regina, Priller, Josef, Nguyen, Huu Phuc, Reetz, Kathrin, Reilmann, Ralf, Seppi, Klaus, Landwehrmeyer, Georg Bernhard, Saft, Carsten; https://orcid.org/0000-0002-3983-7292, Burgunder, Jean-Marc, Dose, Matthias, Jung, Hans Heinrich, Katzenschlager, Regina, Priller, Josef, Nguyen, Huu Phuc, Reetz, Kathrin, Reilmann, Ralf, Seppi, Klaus, and Landwehrmeyer, Georg Bernhard

Abstract

Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. Summary or definition of the topic The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries. Recommendations Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27–35 CAG repeats) which may display expansions into the pathogenic range). Conclusions The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.

Published
2023

28. Symptomatic treatment options for Huntington’s disease (guidelines of the German Neurological Society)

Author

Saft, Carsten; https://orcid.org/0000-0002-3983-7292, Burgunder, Jean-Marc, Dose, Matthias, Jung, Hans Heinrich, Katzenschlager, Regina, Priller, Josef, Nguyen, Huu Phuc, Reetz, Kathrin, Reilmann, Ralf, Seppi, Klaus, Landwehrmeyer, Georg Bernhard, Saft, Carsten; https://orcid.org/0000-0002-3983-7292, Burgunder, Jean-Marc, Dose, Matthias, Jung, Hans Heinrich, Katzenschlager, Regina, Priller, Josef, Nguyen, Huu Phuc, Reetz, Kathrin, Reilmann, Ralf, Seppi, Klaus, and Landwehrmeyer, Georg Bernhard

Abstract

Introduction Ameliorating symptoms and signs of Huntington’s disease (HD) is essential to care but can be challenging and hard to achieve. The pharmacological treatment of motor signs (e.g. chorea) may favorably or unfavorably impact other facets of the disease phenotype (such as mood and cognition). Similarly, pharmacotherapy for behavioral issues may modify the motor phenotype. Sometimes synergistic effects can be achieved. In patients undergoing pragmatic polypharmacological therapy, emerging complaints may stem from the employed medications' side effects, a possibility that needs to be considered. It is recommended to clearly and precisely delineate the targeted signs and symptoms (e.g., chorea, myoclonus, bradykinesia, Parkinsonism, or dystonia). Evidence from randomized controlled trials (RCTs) is limited. Summary or definition of the topic Therefore, the guidelines prepared for the German Neurological Society (DGN) for German-speaking countries intentionally extend beyond evidence from RCTs and aim to synthesize evidence from RCTs and recommendations of experienced clinicians. Recommendations First-line treatment for chorea is critically discussed, and a preference in prescription practice for using tiapride instead of tetrabenazine is noted. In severe chorea, combining two antidopaminergic drugs with a postsynaptic (e.g., tiapride) and presynaptic mode of action (e.g., tetrabenazine) is discussed as a potentially helpful strategy. Sedative side effects of both classes of compounds can be used to improve sleep if the highest dosage of the day is given at night. Risperidone, in some cases, may ameliorate irritability but also chorea and sleep disorders. Olanzapine can be helpful in the treatment of weight loss and chorea, and quetiapine as a mood stabilizer with an antidepressant effect. Conclusions Since most HD patients simultaneously suffer from distinct motor signs and distinct psychiatric/behavioral symptoms, treatment should be individually adapted.

Published
2023

33. sj-docx-2-dhj-10.1177_20552076231181239 - Supplemental material for Technology acceptance of digital devices for home use: Qualitative results of a mixed methods study

Author

Graeber, Johanna, Warmerdam, Elke, Aufenberg, Svenja, Bull, Christopher, Davies, Kristen, Dixon, Jan, Emmert, Kirsten, Judd, Claire, Maetzler, Corina, Reilmann, Ralf, Ng, Wan-Fai, Macrae, Victoria, Maetzler, Walter, and Kaduszkiewicz, Hanna

Subjects
FOS: Computer and information sciences, 200299 Cultural Studies not elsewhere classified, Science Policy, FOS: Clinical medicine, FOS: Political science, 150310 Organisation and Management Theory, Cardiology, 111799 Public Health and Health Services not elsewhere classified, FOS: Health sciences, 110306 Endocrinology, 110308 Geriatrics and Gerontology, 99999 Engineering not elsewhere classified, FOS: Sociology, FOS: Economics and business, 111099 Nursing not elsewhere classified, FOS: Other engineering and technologies, Sociology, 111708 Health and Community Services, Anthropology, 111702 Aged Health Care, 89999 Information and Computing Sciences not elsewhere classified, FOS: Other humanities, 160512 Social Policy, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-docx-2-dhj-10.1177_20552076231181239 for Technology acceptance of digital devices for home use: Qualitative results of a mixed methods study by Johanna Graeber, Elke Warmerdam, Svenja Aufenberg, Christopher Bull, Kristen Davies, Jan Dixon, Kirsten Emmert, Claire Judd, Corina Maetzler, Ralf Reilmann, Wan-Fai Ng, Victoria Macrae, Walter Maetzler, Hanna Kaduszkiewicz and in DIGITAL HEALTH

Published
2023
Full Text
View/download PDF

34. sj-docx-1-dhj-10.1177_20552076231181239 - Supplemental material for Technology acceptance of digital devices for home use: Qualitative results of a mixed methods study

Author

Graeber, Johanna, Warmerdam, Elke, Aufenberg, Svenja, Bull, Christopher, Davies, Kristen, Dixon, Jan, Emmert, Kirsten, Judd, Claire, Maetzler, Corina, Reilmann, Ralf, Ng, Wan-Fai, Macrae, Victoria, Maetzler, Walter, and Kaduszkiewicz, Hanna

Subjects
FOS: Computer and information sciences, 200299 Cultural Studies not elsewhere classified, Science Policy, FOS: Clinical medicine, FOS: Political science, 150310 Organisation and Management Theory, Cardiology, 111799 Public Health and Health Services not elsewhere classified, FOS: Health sciences, 110306 Endocrinology, 110308 Geriatrics and Gerontology, 99999 Engineering not elsewhere classified, FOS: Sociology, FOS: Economics and business, 111099 Nursing not elsewhere classified, FOS: Other engineering and technologies, Sociology, 111708 Health and Community Services, Anthropology, 111702 Aged Health Care, 89999 Information and Computing Sciences not elsewhere classified, FOS: Other humanities, 160512 Social Policy, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-docx-1-dhj-10.1177_20552076231181239 for Technology acceptance of digital devices for home use: Qualitative results of a mixed methods study by Johanna Graeber, Elke Warmerdam, Svenja Aufenberg, Christopher Bull, Kristen Davies, Jan Dixon, Kirsten Emmert, Claire Judd, Corina Maetzler, Ralf Reilmann, Wan-Fai Ng, Victoria Macrae, Walter Maetzler, Hanna Kaduszkiewicz and in DIGITAL HEALTH

Published
2023
Full Text
View/download PDF

36. Assessing fatigue and sleep in chronic diseases using physiological signals from wearables : A pilot study

Author

on behalf of the IDEA-FAST project consortium, Antikainen, Emmi, Njoum, Haneen, Kudelka, Jennifer, Branco, Diogo, Rehman, Rana Zia Ur, Macrae, Victoria, Davies, Kristen, Hildesheim, Hanna, Emmert, Kirsten, Reilmann, Ralf, Janneke van der Woude, C., Maetzler, Walter, Ng, Wan Fai, O’Donnell, Patricio, Van Gassen, Geert, Baribaud, Frédéric, Pandis, Ioannis, Manyakov, Nikolay V., van Gils, Mark, Ahmaniemi, Teemu, Chatterjee, Meenakshi, Tampere University, Computing Sciences, and BioMediTech

Subjects
217 Medical engineering, 113 Computer and information sciences
Abstract

Problems with fatigue and sleep are highly prevalent in patients with chronic diseases and often rated among the most disabling symptoms, impairing their activities of daily living and the health-related quality of life (HRQoL). Currently, they are evaluated primarily via Patient Reported Outcomes (PROs), which can suffer from recall biases and have limited sensitivity to temporal variations. Objective measurements from wearable sensors allow to reliably quantify disease state, changes in the HRQoL, and evaluate therapeutic outcomes. This work investigates the feasibility of capturing continuous physiological signals from an electrocardiography-based wearable device for remote monitoring of fatigue and sleep and quantifies the relationship of objective digital measures to self-reported fatigue and sleep disturbances. 136 individuals were followed for a total of 1,297 recording days in a longitudinal multi-site study conducted in free-living settings and registered with the German Clinical Trial Registry (DRKS00021693). Participants comprised healthy individuals (N = 39) and patients with neurodegenerative disorders (NDD, N = 31) and immune mediated inflammatory diseases (IMID, N = 66). Objective physiological measures correlated with fatigue and sleep PROs, while demonstrating reasonable signal quality. Furthermore, analysis of heart rate recovery estimated during activities of daily living showed significant differences between healthy and patient groups. This work underscores the promise and sensitivity of novel digital measures from multimodal sensor time-series to differentiate chronic patients from healthy individuals and monitor their HRQoL. The presented work provides clinicians with realistic insights of continuous at home patient monitoring and its practical value in quantitative assessment of fatigue and sleep, an area of unmet need. publishedVersion

Published
2022

37. Assessing fatigue and sleep in chronic diseases using physiological signals from wearables: A pilot study

Author

Antikainen, Emmi, primary, Njoum, Haneen, additional, Kudelka, Jennifer, additional, Branco, Diogo, additional, Rehman, Rana Zia Ur, additional, Macrae, Victoria, additional, Davies, Kristen, additional, Hildesheim, Hanna, additional, Emmert, Kirsten, additional, Reilmann, Ralf, additional, Janneke van der Woude, C., additional, Maetzler, Walter, additional, Ng, Wan-Fai, additional, O’Donnell, Patricio, additional, Van Gassen, Geert, additional, Baribaud, Frédéric, additional, Pandis, Ioannis, additional, Manyakov, Nikolay V., additional, van Gils, Mark, additional, Ahmaniemi, Teemu, additional, and Chatterjee, Meenakshi, additional

Published
2022
Full Text
View/download PDF

40. F37 Effects of a partner’s task on memory performance in Huntington’s disease

Author

Fraisse, Nicolas, primary, Dallery, Romain, additional, Cléret de Langavant, Laurent, additional, Youssov, Katia, additional, Morgado, Graça, additional, Schubert, Robin, additional, Reilmann, Ralf, additional, Busse, Monica, additional, Craufurd, David, additional, Rosser, Anne, additional, Lunven, Marine, additional, and Bachoud-Lévi, Anne-Catherine, additional

Published
2022
Full Text
View/download PDF

42. H38 A new approach to digitized cognitive monitoring: validity of the selfcog in Huntington’s disease

Author

Lunven, Marine, primary, Hernandez Dominguez, Karen, additional, Youssov, Katia, additional, Hamet Bagnou, Jennifer, additional, Fliss, Rafika, additional, Vandendriessche, Henri, additional, Bapst, Blanche, additional, Morgado, Graça, additional, Schubert, Robin, additional, Reilmann, Ralf, additional, Busse, Monica, additional, Craufurd, David, additional, Massart, Renaud, additional, Rosser, Anne, additional, and Bachoud-Lévi, Anne-Catherine, additional

Published
2022
Full Text
View/download PDF

45. F35 The striatum in time production: the model of Huntington’s disease in longitudinal study

Author

Lemoine, Laurie, primary, Lunven, Marine, additional, Fraisse, Nicolas, additional, Youssov, Katia, additional, Bapst, Blanche, additional, Morgado, Graça, additional, Reilmann, Ralf, additional, Busse, Monica, additional, Craufurd, David, additional, Rosser, Anne, additional, Gardelle, Vincent de, additional, and Bachoud-Lévi, Anne-Catherine, additional

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results