Article
Neurosciences
Sophie Lenoir, Romane A. Lahaye, Helene Vitet, Chiara Scaramuzzino, Amandine Virlogeux, Laetitia Capellano, Aurelie Genpux, Noga Gershoni-Emek, Michal Geva, Michael R. Hayden, Frederic Saudou
Summary: Huntington's disease is a neurodegenerative disorder caused by CAG repeat expansion in the HTT gene. Pridopidine, a sigma-1 receptor agonist, enhances the availability of BDNF to protect neurons in HD.
NEUROBIOLOGY OF DISEASE
(2022)
Article
Clinical Neurology
Luana Naia, Philip Ly, Sandra I. Mota, Carla Lopes, Carina Maranga, Patricia Coelho, Noga Gershoni-Emek, Maria Ankarcrona, Michal Geva, Michael R. Hayden, A. Cristina Rego
Summary: Pridopidine is a selective Sigma-1 receptor agonist being developed for Huntington disease and amyotrophic lateral sclerosis. It enhances mitochondrial function by improving activity, elongation, and motility, leading to neuroprotective effects in HD models. Pridopidine also reduces ROS levels and restores antioxidant response in various HD models, showing potential therapeutic benefits.
Article
Radiology, Nuclear Medicine & Medical Imaging
Igor D. Grachev, Philipp M. Meyer, Georg A. Becker, Marcus Bronzel, Doug Marsteller, Gina Pastino, Ole Voges, Laura Rabinovich, Helena Knebel, Franziska Zientek, Michael Rullmann, Bernhard Sattler, Marianne Patt, Thilo Gerhards, Maria Strauss, Andreas Kluge, Peter Brust, Juha-Matti Savola, Mark F. Gordon, Michal Geva, Swen Hesse, Henryk Barthel, Michael R. Hayden, Osama Sabri
Summary: Pridopidine demonstrates high affinity for the S1R in clinical trials, with near complete occupancy at a clinically relevant single dose of 90 mg. Minimal occupancy is seen at the D2/D3R, indicating pridopidine's selectivity as an S1R ligand. The dose-S1R occupancy relationship suggests cooperative binding of pridopidine to the S1R.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2021)
Article
Clinical Neurology
Hector M. Estevez-Silva, German Cuesto, Ninovska Romero, Jose Miguel Brito-Armas, Abraham Acevedo-Arozena, Angel Acebes, Daniel J. Marcellino
Summary: Sigma-1 receptor agonists ACR16 and PRE-084 have been shown to promote the formation of new synapses and dendritic spines in vitro, while also exhibiting neuroprotective effects against oxidative stress and excitotoxicity. In an APP/PS1 mouse model, ACR16 improved spatial learning and memory deficits through activation of the PI3K/Akt pathway.
Article
Multidisciplinary Sciences
J. Brucker Nourse, Shannon N. Russell, Nathan A. Moniz, Kylie Peter, Lena M. Seyfarth, Madison Scott, Han-A Park, Kim A. Caldwell, Guy A. Caldwell
Summary: This study investigates the TNK2 gene variants in Parkinson's disease (PD) patients and their potential impact on dopaminergic neurodegeneration. The findings suggest that TNK2 dysfunction may contribute to PD, possibly through sustained or aberrant activity. The study also highlights the importance of TNK2 and its ortholog SID-3 in coordinating dopaminergic and epigenetic signaling. Experimental results using Caenorhabditis elegans and rat primary neurons demonstrate the neuroprotective effects of TNK2 inhibition and NEDD4 activation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Neurosciences
Hector M. Estevez-Silva, Tomas Mediavilla, Bruno Lima Giacobbo, Xijia Liu, Fahad R. Sultan, Daniel J. Marcellino
Summary: This study investigated the disease-modifying effects of pridopidine in a SOD1 G93A mouse model of ALS. The results showed that pridopidine can modify ALS-associated cachexia and motor deficits, but did not extend the survival of the animals.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2022)
Review
Neurosciences
Nilima Prakash
Summary: This article discusses the degeneration of dopaminergic and other neurons in the aging brain, as well as factors that may contribute to an increased vulnerability to death of these neurons in the early phase of life. It also explores the neuroprotective effects of external supply or ectopic expression of certain secreted and nuclear factors on the midbrain dopaminergic system in the adult and aging brain.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Neurosciences
Fillipe Mendes De Araujo, Annyta F. Frota, Livia B. de Jesus, Lorena Cuenca-Bermejo, Kariny Maria S. Ferreira, Cleonice Creusa Santos, Erica N. Soares, Jessica T. Souza, Flavia S. Sanches, Ana Carla S. Costa, Alana A. Farias, Maria de Fatima Dias Costa, Patricia Munoz, Jose A. Menezes-Filho, Juan Segura-Aguilar, Silvia Lima Costa, Maria Trinidad Herrero, Victor Diogenes Amaral Silva
Summary: The causes of dopaminergic neuronal loss in Parkinson's disease (PD) are not fully understood, but research suggests that a compound called Aminochrome is one of the main contributors. This study found that rutin, a naturally-occurring flavonoid, can protect against Aminochrome-induced cell death and prevent the loss of dopaminergic neurons in animal models of PD.
NEUROTOXICITY RESEARCH
(2023)
Article
Neurosciences
Meysam Hassani Moghaddam, Amir-Hossein Bayat, Neda Eskandari, Mohammad-amin Abdollahifar, Farid Fotouhi, Ali Forouzannia, Romina Rafiei, Saba Hatari, Aryan Seraj, Amir Mahdi Emam Jome Shahidi, Zeynab Ghorbani, Ali Asghar Peyvandi, Abbas Aliaghaei
Summary: Huntington's disease is a hereditary neurodegenerative disorder with no effective therapy. The study showed that Elderberry may have potential benefits in treating HD by improving motor function, muscle coordination, reducing oxidative reactions, and inflammation.
Article
Pharmacology & Pharmacy
Michael G. Morash, Jessica Nixon, Lori M. N. Shimoda, Helen Turner, Alexander J. Stokes, Andrea L. Small-Howard, Lee D. Ellis
Summary: Research has shown that cannabinoids and terpenes in cannabis have potential therapeutic effects for Parkinson's disease. However, using whole plant mixtures may not be ideal. This study focused on identifying essential mixtures of these components and found that some mixtures were able to reverse the changes in movement in a Parkinson's disease model. These findings are significant for the development of Parkinson's disease therapeutics.
FRONTIERS IN PHARMACOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Juan Segura-Aguilar, Patricia Munoz, Jose Inzunza, Mukesh Varshney, Ivan Nalvarte, Bengt Mannervik
Summary: Glutathione is an important antioxidant that plays a crucial role in cellular protection and detoxification. Aminochrome may trigger neurodegenerative processes in the nigrostriatal neurons, but the exact triggers are still unknown. There are protective mechanisms against aminochrome neurotoxicity in the brain.
Article
Biology
A. Ribeiro-Carvalho, P. H. Leal-Rocha, J. Isnardo-Fernandes, U. C. Araujo, Y. Abreu-Villaca, C. C. Filgueiras, A. C. Manhaes
Summary: The study found that varenicline can reduce MPTP-induced hyperactivity, but does not provide protection against dopaminergic damage.
BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
(2021)
Article
Neurosciences
Mohd Salman, Heena Tabassum, Suhel Parvez
Summary: This study reveals the neuroprotective effect of piperine against Huntington disease-like symptoms in rats. The protective effects are demonstrated by attenuating behavioral impairments, reducing neuronal loss and astrocyte activation, and alleviating biochemical, immunohistochemical, and histological alterations.
NUTRITIONAL NEUROSCIENCE
(2022)
Article
Psychology, Multidisciplinary
Shuhei Shiino, Nelleke Corine van Wouwe, Scott A. A. Wylie, Daniel O. O. Claassen, Katherine E. E. McDonell
Summary: This study investigated the temporal dynamics of action impulse control in Huntington disease (HD) patients using an inhibitory action control task. The results showed that HD patients had slower and less accurate reactions, as well as an exacerbated interference effect. However, they still preserved the ability to suppress impulsivity.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Behavioral Sciences
Sarah Martins Presti-Silva, Alice Laschuk Herlinger, Cristina Martins-Silva, Rita Gomes Wanderley Pires
Summary: Parkinson's disease is the second most common neurodegenerative disease worldwide. Current therapeutic approaches only provide relief for motor symptoms, but do not stop or prevent neurodegeneration. Rosmarinic acid, obtained from plants such as sage and rosemary, has antioxidant and anti-inflammatory properties and could be a potential additional therapy for neurodegenerative disorders. This study evaluated the neuroprotective effects of rosmarinic acid treatment in a murine model of Parkinson's disease.
BEHAVIOURAL BRAIN RESEARCH
(2023)
Correction
Clinical Neurology
Saul Martinez-Horta, Andrea Horta-Barba, Jesus Perez-Perez, Frederic Sampedro, Natascia de Lucia, Giuseppe De Michele, Stefanie Kehrer, Josef Priller, Simone Migliore, Ferdinando Squitieri, Anna Castaldo, Caterina Mariotti, Veronica Mananes, Jose Luis Lopez-Sendon, Noelia Rodriguez, Asuncion Martinez-Descals, Pedro Garcia-Ruiz, Filipa Julio, Cristina Januario, Marianna Delussi, Marina de Tommaso, Sandra Noguera, Jesus Ruiz-Idiago, Emilia J. Sitek, Angela Nuzzi, Javier Pagonabarraga, Jaime Kulisevsky
JOURNAL OF NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Theo Battista, Gianmarco Pascarella, David Sasah Staid, Gianni Colotti, Jessica Rosati, Annarita Fiorillo, Alessia Casamassa, Angelo Luigi Vescovi, Barbara Giabbai, Marta Stefania Semrau, Sergio Fanelli, Paola Storici, Ferdinando Squitieri, Veronica Morea, Andrea Ilari
Summary: The study utilized a drug repositioning strategy to identify six drugs that can directly bind sigma 1R and improve the growth of cells from Huntington disease patients. These drugs have shown efficacy in providing new therapeutic tools against HD, offering hope for future treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Alessandro De Luca, Annunziata Morella, Federica Consoli, Sergio Fanelli, Julie R. Thibert, Sarah Statt, Gary J. Latham, Ferdinando Squitieri
Summary: The study demonstrates that the AmplideX PCR/CE HTT Kit technology can accurately detect the expansion of CAG repeat sequences in the HTT gene, including large and very large expansions, thereby improving the reliability and accuracy of genetic testing.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Correction
Clinical Neurology
Simone Migliore, Doriana Landi, Francesca Proietti, Giulia D'Aurizio, Ferdinando Squitieri, Giorgia Mataluni, Carolina Gabri Nicoletti, Giuseppe Curcio, Girolama Alessandra Marfia
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Simone Migliore, Doriana Landi, Francesca Proietti, Giulia D'Aurizio, Ferdinando Squitieri, Giorgia Mataluni, Carolina Gabri Nicoletti, Giuseppe Curcio, GirolamaAlessandraAlessandra Alessandra Marfia
Summary: The study validated the Italian version of the Multiple Sclerosis Neuropsychological Questionnaire (MSNQ) and found correlations between MSNQ scores and cognitive skills, mood status, and physical disability, highlighting its reliability as a screening tool for identifying MS patients at high risk of cognitive impairment.
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Laura Carelli, Federica Solca, Simone Migliore, Silvia Torre, Agostino Brugnera, Francesca Mancini, Sofia Tagini, Roberta Ferrucci, Sabrina Maffi, Consuelo Ceccarelli, Jacopo Pasquini, Jenny Sassone, Ferdinando Squitieri, Andrea Ciammola, Vincenzo Silani, Barbara Poletti
Summary: The ECAS can effectively differentiate between HD patients and HC, as well as the two clinical syndromes, with high sensitivity and specificity. Although the diagnostic accuracy of the ECAS in distinguishing between PD and HC is low, it provides a good description of the PD cognitive phenotype. The ECAS also shows convergent validity with other traditional cognitive screening tools, and correlations with psychological aspects and typical clinical features, especially in the HD group.
NEUROLOGICAL SCIENCES
(2021)
Article
Behavioral Sciences
Simone Migliore, Giulia D'Aurizio, Sabrina Maffi, Consuelo Ceccarelli, Giovanni Ristori, Silvia Romano, Anna Castaldo, Caterina Mariotti, Giuseppe Curcio, Ferdinando Squitieri
Summary: The study showed a significant association between cognitive decline and severity of apathy and perseveration/obsessions in Huntington disease (HD) patients, with disease progression confirmed after two years. This suggests an important role of cognitive and behavioral changes in the development of HD.
BRAIN AND BEHAVIOR
(2021)
Article
Clinical Neurology
Pearl J. C. van Lonkhuizen, Niko J. H. Vegt, Eline Meijer, Erik van Duijn, Susanne T. de Bot, Jiri Klempir, Wiebke Frank, G. Bernhard Landwehrmeyer, Alzbeta Muehlbaeck, Jennifer Hoblyn, Ferdinando Squitieri, Peter Foley, Niels H. Chavannes, Anne-Wil Heemskerk
Summary: The study aims to develop a multinational eHealth platform targeting the needs of HDGECs and their partners, involving end-users in all design decisions to provide high-quality, tailored care and testing the platform in different healthcare systems and cultural contexts.
FRONTIERS IN NEUROLOGY
(2021)
Article
Health Care Sciences & Services
Filipa Julio, Ruth Blanco, Jose Perez Casanova, Barbara D'Alessio, Beatrice De Schepper, Dina De Sousa, Paul De Sousa, Cristina Ferreira, Hans Gommans, Rob Haselberg, Emilie Hermant, Danuta Lis, Sabrina Maffi, Svein Olaf Olsen, Marios Papantoniou, Ferdinando Squitieri, Marina Tretyakova, Zaynab Umakhanova, Vladimir Vaclavik, Michaela Winkelmann, Astri Arnesen
Summary: Progress has been made in Huntington's disease research, but effective treatments before disabling symptoms are still lacking. The European Huntington Association surveyed individuals at risk and with premanifest HD to determine factors affecting their willingness to participate in research. Motivation to participate in research is high, influenced by subjective and objective factors, HD status, and the role of patient organizations in fostering motivation through education and support.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Health Care Sciences & Services
Federica Graziola, Sabrina Maffi, Melissa Grasso, Giacomo Garone, Simone Migliore, Eugenia Scaricamazza, Consuelo Ceccarelli, Melissa Casella, Ludovica Busi, Barbara D'Alessio, Alessandro De Luca, Giovanna Stefania Colafati, Umberto Sabatini, Alessandro Capuano, Ferdinando Squitieri
Summary: The Spazio Huntington program aims to study pediatric Huntington disease (PHD) by providing counseling, evaluating motor, cognitive, and behavioral changes, and conducting follow-ups. Magnetic resonance imaging can confirm initial abnormalities in PHD. This program may serve as a basis for recruiting PHD patients in future clinical trials.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Simone Migliore, Giulia D'Aurizio, Eugenia Scaricamazza, Sabrina Maffi, Consuelo Ceccarelli, Giovanni Ristori, Silvia Romano, Anna Castaldo, Mario Fichera, Giuseppe Curcio, Ferdinando Squitieri
Summary: This study focused on Cognitive Reserve (CR) in patients with early Huntington Disease (HD) and found that lifetime intellectual enrichment may influence clinical outcomes. The results indicated that leisure time cognitive reserve was inversely associated with functional impairment and HD progression, while positively associated with cognitive performance.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Neurosciences
Andrea Horta-Barba, Saul Martinez-Horta, Jesus Perez-Perez, Frederic Sampedro, Natascia de Lucia, Giuseppe De Michele, Elena Salvatore, Stefanie Kehrer, Josef Priller, Simone Migliore, Ferdinando Squitieri, Anna Castaldo, Caterina Mariotti, Veronica Mananes, Jose Luis Lopez-Sendon, Noelia Rodriguez, Asuncion Martinez-Descals, Filipa Julio, Cristina Janurio, Marianna Delussi, Marina de Tommaso, Sandra Noguera, Jesus Ruiz-Idiago, Emilia J. Sitek, Renata Wallner, Angela Nuzzi, Javier Pagonabarraga, Jaime Kulisevsky
Summary: This study aimed to investigate the performance of arithmetic tasks in Huntington's disease (HD) patients, and found that arithmetic word-problem solving is affected early in the course of the disease, and is related to deficient processes in frontal-executive and mentalizing-related processes.
JOURNAL OF HUNTINGTONS DISEASE
(2021)
Article
Health Care Sciences & Services
Sabrina Maffi, Eugenia Scaricamazza, Simone Migliore, Melissa Casella, Consuelo Ceccarelli, Ferdinando Squitieri
Summary: This study investigated the correlations between sleep features and motor, cognitive, behavioral, and functional changes in individuals with Huntington's disease (HD). The results showed a significant association between sleep abnormalities and the severity of disease progression, as well as impaired independence, cognitive performance, and motor functions. Sleep abnormalities are an important aspect of the clinical profile of HD and can greatly impact patients' quality of life.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Valerie Crowell, Richard Houghton, Akanksha Tomar, Tricia Fernandes, Ferdinando Squitieri
Summary: Understanding the epidemiology of Huntington's disease is crucial for assessing disease burden and healthcare resource allocation. A model was developed and validated to estimate the diagnosed prevalence of the disease, with data from 8 countries indicating an estimated 66,787 individuals diagnosed with HD in 2020. The majority of patients were in less severe stages, with diagnosed prevalence rates varying between countries.
Article
Neurosciences
Marta Olivetti Belardinelli, Thomas Hunefeldt, Roberta Meloni, Ferdinando Squitieri, Sabrina Maffi, Simone Migliore
Summary: Huntington's disease is a genetic neurodegenerative disorder that affects motor, cognitive, and neuropsychiatric functions. Research shows that deficits in mental state recognition may appear in early pre-manifest stages of the disease, and are related to abnormalities in visual scanning behavior.
EXPERIMENTAL BRAIN RESEARCH
(2021)