Review
Clinical Neurology
Joaquim J. Ferreira, Filipe B. Rodrigues, Goncalo S. Duarte, Tiago A. Mestre, Anne-Catherine Bachoud-Levi, Anna Rita Bentivoglio, Jean-Marc Burgunder, Francisco Cardoso, Daniel O. Claassen, G. Bernard Landwehrmeyer, Jaime Kulisevsky, Melissa J. Nirenberg, Anne Rosser, Jan Roth, Klaus Seppi, Jaroslaw Slawek, Erin Furr-Stimming, Sarah J. Tabrizi, Francis O. Walker, Wim Vandenberghe, Joao Costa, Cristina Sampaio
Summary: The management of Huntington's disease (HD) is challenging and mainly consists of off-label treatments. A task force was commissioned to review available therapies for HD gene expansion carriers. Limited data supports the use of VMAT2 inhibitors for specific motor symptoms.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Erin Furr Stimming, Daniel Claassen, Elise Kayson, Jody Goldstein, Raja Mehanna, Hui Zhang, Grace S. Liang, Dietrich Haubenberger
Summary: Valbenazine was evaluated as a treatment for chorea associated with Huntington's disease, and it was found to be more effective than placebo in improving chorea symptoms and well tolerated.
Article
Clinical Neurology
Anna Heinzmann, Sabrina Sayah, Francois-Xavier Lejeune, Valerie Hahn, Marc Teichmann, Marie-Lorraine Monin, Enrica Marchionni, Fleur Gerard, Perrine Charles, Jeremie Pariente, Alexandra Durr
Summary: The study investigated the phenotype of CAG(36-38) repeat carriers and found that they had a similar cognitive profile to those with the more common CAG(40-42) expansions, but exhibited differences in motor function. This finding should encourage neurologists to consider Huntington's disease in cognitively impaired elderly patients without typical chorea and anticipate consequences for genetic counseling in their offspring.
MOVEMENT DISORDERS
(2023)
Review
Clinical Neurology
Roberta Bonomo, Antonio E. Elia, Giulio Bonomo, Luigi M. Romito, Caterina Mariotti, Grazia Devigili, Roberto Cilia, Riccardo Giossi, Roberto Eleopra
Summary: In patients with Huntington's disease, deep brain stimulation in the globus pallidus internus can lead to significant improvements in disease rating and motor symptoms, while effectively reducing chorea scores. Further studies are needed to identify reliable criteria to guide patient selection for DBS therapy.
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Jaroslaw Dulski, Anna Sulek, Magdalena Krygier, Wiktoria Radziwonik, Jaroslaw Slawek
Summary: This study reports a 42-year-old patient with clinical phenotype suggestive of HD, who was repeatedly negative on genetic testing until a new set of primers enabled successful diagnosis of HD. The study suggests incorporating these new primers into routine genetic testing for patients suspected of HD displaying homoallelism in the standard protocol.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Cell Biology
Astrid Valles, Melvin M. Evers, Anouk Stam, Marina Sogorb-Gonzalez, Cynthia Brouwers, Carlos Vendrell-Tornero, Seyda Acar-Broekmans, Lieke Paerels, Jiri Klima, Bozena Bohuslavova, Roberta Pintauro, Valentina Fodale, Alberto Bresciani, Roman Liscak, Dusan Urgosik, Zdenek Starek, Michal Crha, Bas Blits, Harald Petry, Zdenka Ellederova, Jan Motlik, Sander van Deventer, Pavlina Konstantinova
Summary: This study demonstrates the widespread biodistribution, strong and durable efficiency of rAAV5-miHTT in disease-relevant regions in a large brain, and the potential of using CSF analysis to determine vector expression and efficacy in the clinic.
SCIENCE TRANSLATIONAL MEDICINE
(2021)
Article
Clinical Neurology
Gustavo L. Franklin, Helio A. G. Teive, Alex T. Meira, Adriana M. T. Nepomuceno, Sarah J. Tabrizi
Summary: The article "On Chorea" by George Huntington was published in The Medical and Surgical Reporter of Philadelphia on April 13, 1872. It is a significant milestone in the recognition of Huntington's chorea, a disease that later became named after him. However, there are still some myths and curiosities surrounding the history of this publication and its author.
MOVEMENT DISORDERS
(2022)
Review
Clinical Neurology
Quang Tuan Remy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Levi
Summary: This study examines the diagnosis of HD phenocopies and proposes guidance that combines the detection of clinical red flags with the classification of paraclinical testing options. The study utilizes a literature review and physician surveys to provide a diagnostic approach for HD phenocopies.
FRONTIERS IN NEUROLOGY
(2022)
Review
Pharmacology & Pharmacy
Robert Wiggins, Andrew Feigin
Summary: Huntington's disease is characterized by motor dysfunction, behavioral symptoms, and cognitive impairment, with current clinical practice focusing mainly on symptomatic treatment. Recent advancements in disease modifying therapeutics have created optimism in the field, with diverse and promising emerging therapies expected to have a meaningful impact on patients' lives.
EXPERT OPINION ON EMERGING DRUGS
(2021)
Article
Public, Environmental & Occupational Health
Ernesto Solis-Anez, Philippe A. Salles, Natalia Rojas, Olga Benavides, Pedro Chana-Cuevas
Summary: The study investigated the sociodemographic, genotype, and neuropsychiatric features of patients with Huntington's disease (HD) in Chile. The minimal prevalence of HD in Chile was found to be 0.72/100,000 inhabitants, with a mean CAG repeat of 47.2 and a mean age of onset of 41.39 years. 79.6% of patients had a family history of HD.
Article
Medicine, Research & Experimental
Daniel O. Claassen, Rajeev Ayyagari, Debbie Goldschmidt, Mo Zhou, Sam Leo, Rinat Ribalov
Summary: This study estimated the impact of Huntington's disease chorea severity on quality of life using utility values from the general population. The results showed that as chorea severity increased, there was a significant decrease in utility values.
ADVANCES IN THERAPY
(2022)
Review
Clinical Neurology
Ling Pan, Andrew Feigin
Summary: The article discusses new potential disease-modifying therapies for Huntington's disease that are currently being tested in human clinical trials and in preclinical development. These therapies include DNA/gene therapies, RNA modulation, and targeting abnormal downstream pathways, showing promise in addressing the complex pathogenesis of the disease.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Pei Teng Lum, Mahendran Sekar, Siew Hua Gan, Srinivasa Reddy Bonam, Mohd Farooq Shaikh
Summary: Huntington's disease is a neurodegenerative disorder with no available treatment to completely halt its progression. Studies have shown that natural products exhibit neuroprotective effects in HD experimental models, alleviating memory loss and motor dysfunction, improving biochemical markers, and reducing tissue damage.
ACS CHEMICAL NEUROSCIENCE
(2021)
Review
Medicine, General & Internal
Rajeshwar Andhale, Deepti Shrivastava
Summary: Huntington's disease is a completely penetrant neurological condition caused by a gene mutation. Recent progress has been made in studying the cellular pathology and structural changes in the brain as the disease advances. Current treatment mainly focuses on palliative therapy and symptom control, but new treatments aiming to reduce mutant protein are showing promise.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Review
Neurosciences
Xiaoyu Dong, Shuyan Cong
Summary: miRNA is a key molecule in the growth and function of the nervous system. Dysregulated miRNA expression has been linked to neurodegenerative disorders like Huntington's disease, suggesting potential roles as biomarkers and therapeutic targets in these diseases.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Neurosciences
Michael Orth, Sarah Gregory, Rachael I. Scahill, Isabella S. M. Mayer, Lora Minkova, Stefan Kloeppel, Kiran K. Seunarine, Lara Boyd, Beth Borowsky, Ralf Reilmann, G. Bernhard Landwehrmeyer, Blair R. Leavitt, Raymund A. C. Roos, Alexandra Durr, Geraint Rees, John C. Rothwell, Douglas Langbehn, Sarah J. Tabrizi
HUMAN BRAIN MAPPING
(2016)
Article
Clinical Neurology
M. Jacobs, E. P. Hart, E. W. van Zwet, A. R. Bentivoglio, J. M. Burgunder, D. Craufurd, R. Reilmann, C. Saft, R. A. C. Roos
JOURNAL OF NEUROLOGY
(2016)
Article
Biochemical Research Methods
Robin Schubert, Frauke Frank, Nina Nagelmann, Lennart Liebsch, Verena Schuldenzucker, Sarah Schramke, Maike Wirsig, Hans Johnson, Eun Young Kim, Stefanie Ott, Eva Hoelzner, Sergej O. Demokritov, Jan Motlik, Cornelius Faber, Ralf Reilmann
JOURNAL OF NEUROSCIENCE METHODS
(2016)
Article
Biochemical Research Methods
Sarah Schramke, Verena Schuldenzucker, Robin Schubert, Frauke Frank, Maike Wirsig, Stefanie Ott, Jan Motlik, Michaela Fels, Nicole Kemper, Eva Hoelzner, Ralf Reilmann
JOURNAL OF NEUROSCIENCE METHODS
(2016)
Article
Neurosciences
Marina Papoutsi, Nikolaus Weiskopf, Douglas Langbehn, Ralf Reilmann, Geraint Rees, Sarah J. Tabrizi
HUMAN BRAIN MAPPING
(2018)
Article
Clinical Neurology
Chris Frost, Amy Mulick, Rachael I. Scahill, Gail Owen, Elizabeth Aylward, Blair R. Leavitt, Alexandra Durr, Raymund A. C. Roos, Beth Borowsky, Julie C. Stout, Ralf Reilmann, Douglas R. Langbehn, Sarah J. Tabrizi, Cristina Sampaio
MOVEMENT DISORDERS
(2017)
Article
Clinical Neurology
Jeffrey D. Long, James A. Mills, Blair R. Leavitt, Alexandra Durr, Raymund A. Roos, Julie C. Stout, Ralf Reilmann, Bernhard Landwehrmeyer, Sarah Gregory, Rachael I. Scahill, Douglas R. Langbehn, Sarah J. Tabrizi
Article
Dentistry, Oral Surgery & Medicine
S. Rohrbach, F. Buettner, D. Pollex, P. Mathmann, L. Weinhold, R. Schubert, R. Reilmann
JOURNAL OF ORAL REHABILITATION
(2018)
Letter
Clinical Neurology
Ralf Reilmann, Robin Schubert, Stefan Bohlen, Christian Sass
MOVEMENT DISORDERS
(2018)
Article
Multidisciplinary Sciences
Verena Schuldenzucker, Robin Schubert, Lisa M. Muratori, Frauke Freisfeld, Lorena Rieke, Tamara Matheis, Sarah Schramke, Jan Motlik, Nicole Kemper, Ute Radespiel, Ralf Reilmann
Letter
Clinical Neurology
Oliver W. J. Quarrell, Martha A. Nance, Peg Nopoulos, Ralf Reilmann, Mayke Oosterloo, Sarah J. Tabrizi, Hannah Furby, Carsten Saft, Raymund A. C. Roos, Ferdinando Squitieri, G. Bernhard Landwehrmeyer, Jean-Marc Burgunder
MOVEMENT DISORDERS
(2019)
Article
Clinical Neurology
Joaquin A. Vizcarra, Alvaro Sanchez-Ferro, Walter Maetzler, Luca Marsili, Lucia Zavala, Anthony E. Lang, Pablo Martinez-Martin, Tiago A. Mestre, Ralf Reilmann, Jeffrey M. Hausdorff, E. Ray Dorsey, Serene S. Paul, Judith W. Dexheimer, Benjamin D. Wissel, Rebecca L. M. Fuller, Paolo Bonato, Ai Huey Tan, Bastiaan R. Bloem, Catherine Kopil, Margaret Daeschler, Lauren Bataille, Galit Kleiner, Jesse M. Cedarbaum, Jochen Klucken, Aristide Merola, Christopher G. Goetz, Glenn T. Stebbins, Alberto J. Espay
MOVEMENT DISORDERS
(2019)
Article
Clinical Neurology
E. Schaeffer, S. Streich, I. Wurster, R. Schubert, R. Reilmann, S. Wolfram, D. Berg
PARKINSONISM & RELATED DISORDERS
(2019)
Article
Multidisciplinary Sciences
Marine Lunven, Jennifer Hamet Bagnou, Katia Youssov, Alexis Gabadinho, Rafika Fliss, Justine Montillot, Etienne Audureau, Blanche Bapst, Graca Morgado, Ralf Reilmann, Robin Schubert, Monica Busse, David Craufurd, Renaud Massart, Anne Rosser, Anne-Catherine Bachoud-Levi
Summary: The digitized arithmetic task (DAT) is a fast, reliable, motor-free cognitive task applicable in several languages, able to unmask cognitive decline correlated with striatal atrophy in small cohorts of Huntington's disease patients. It is likely to be a useful endpoint in future trials for HD and other neurodegenerative diseases.
Article
Clinical Neurology
Christopher A. Ross, Ralf Reilmann, Francisco Cardoso, Elizabeth A. McCusker, Claudia M. Testa, Julie C. Stout, Blair R. Leavitt, Thong Pei, Bernhard Landwehrmeyer, Asuncion Martinez, Jamie Levey, Teresa Srajer, Jee Bang, Sarah J. Tabrizi
MOVEMENT DISORDERS CLINICAL PRACTICE
(2019)