Review
Clinical Neurology
Jes Olesen
Summary: The European Academy of Neurology (EAN) is a member of the European Brain Council (EBC), which brings together various stakeholders in brain research to advocate for increased funding and support. The EBC has been successful in generating important data on the cost of brain diseases and in increasing funding for brain research in the European Union.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Alex R. Brown, Hannah E. Branthwaite, Zahra Z. Farahbakhsh, Snigdha Mukerjee, Patrick R. Melugin, Keaton Song, Habiba Noamany, Cody A. Siciliano
Summary: There is tension between methodologies in model species research and preclinical to clinical translation in alcohol research. To address this, researchers establish a modular alcohol reinforcement paradigm and combine it with existing preclinical alcohol models to determine longitudinal phenotype dynamics and potential neuro-biomarkers of alcohol vulnerability.
MOLECULAR PSYCHIATRY
(2023)
Review
Biochemistry & Molecular Biology
Alesa H. Netzley, Galit Pelled
Summary: In recent years, pigs have gained attention as an important model animal for studying human neuroanatomy, physiology, and behavior. Their high intelligence and ability to perform various behaviors make them valuable in understanding neurological conditions. Pigs have particularly emerged as a relevant species for studying traumatic brain injury. The use of pigs in cognitive and behavioral research, as well as physiological assessment, is discussed in this review.
Review
Psychiatry
Han Cao, Xudong Hong, Heike Tost, Andreas Meyer-Lindenberg, Emanuel Schwarz
Summary: This review discusses the potential utility and methodological development of multi-task learning (MTL) in multi-modal data analyses in neuroscience, and provides a step-by-step guide for its application.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Clinical Neurology
Andrei Brinzeu, Marc Sindou
Summary: At the end of the 1950s, Pierre Wertheimer established the Pierre Wertheimer Neurological and Neurosurgical Hospital in Lyon, which served as a center for neuroscience, combining hospital and training facilities. The hospital's structure focused on spatial unity, specialized fields, a large patient population, structured training, and cross-communication between areas. The hospital made significant contributions to functional neurosurgery, pain surgery, physiology, epilepsy surgery, and spasticity surgery, fostering collaboration between different teams and laying the groundwork for a neuroscientific doctoral school.
JOURNAL OF NEUROSURGERY
(2023)
Article
Behavioral Sciences
K. Hakvoort, C. Conzen-Dilger, A. Gutzmann, E. Losse, S. C. Tauber, N. Chechko, A. Hoellig
Summary: Gender disparity in academic neuroscience, particularly in neurosurgery, neurology, and psychiatry, is evident based on this review. The percentage of female authors and their role as the last author varies across different specialties. The reasons behind this gender disparity in clinical neuroscience should be addressed considering cultural and historical factors.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2023)
Review
Neurosciences
Garikoitz Azkona, Rosario Sanchez-Pernaute
Summary: Animal models are crucial in neuroscience research, but there are recurring issues in data collection and interpretation, a lack of biomarkers, and an over-reliance on mice, leading to low translation efficiency. Non-human primates, with their higher brain complexity and similarity to humans, can provide more relevant translational information. Therefore, resources for training, education, husbandry, and data sharing should be prioritized to improve translational efficiency.
PROGRESS IN NEUROBIOLOGY
(2022)
Article
Clinical Neurology
Mia T. Minen, Kayla Kaplan, Sangida Akter, Dennique Khanns, Tasha Ostendorf, Carol E. Rheaume, Steven Friedman, Rebecca Erwin Wells
Summary: Despite the increasing interest in neuroscience at the undergraduate level, there is still a shortage of neurologists in the United States. In order to understand how to generate more interest in neurology at the undergraduate level, a survey was conducted among 1,085 undergraduate students in neuroscience courses or majoring/minoring in neuroscience. The survey assessed the students' clinical neurology exposure, research experiences, and career goals. The results showed the need for more opportunities for students to interact with neurologists and gain volunteer and internship experiences.
Article
Education & Educational Research
Stefano Sandrone, Iro Ntonia
Summary: This study is the first mixed-method research exploring the development of the neuroscientist identity at the postgraduate level in a high-ranking, research-intensive UK University. It combines responses from standardized self-efficacy and professional identity questionnaires with qualitative data from nineteen semi-structured interviews with alumni and academics.
BMC MEDICAL EDUCATION
(2022)
Review
Behavioral Sciences
Elina A. K. Jacobs, Soojin Ryu
Summary: The larval zebrafish is an ideal model for studying neurological and psychiatric disorders due to its conserved brain structures and ease of manipulation. Understanding individual differences is crucial for tackling variable presentations of neuropsychiatric conditions and achieving personalized medicine. This article provides a blueprint for investigating variability in larval zebrafish and highlights the importance of utilizing existing paradigms to explore individual differences further. The unique strengths of the zebrafish model can advance our understanding of the translational question.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2023)
Article
Biochemical Research Methods
Alan S. Lewis, William P. Nobis
Summary: Replicability and reproducibility are crucial for valid scientific research. However, the concept of replication in fundamental neuroscience studies may not fully apply to clinical neuroscience with patients. Aligning the concept of replication across this translational spectrum could expedite the development of new treatments for psychiatric and neurological disorders.
JOURNAL OF NEUROSCIENCE METHODS
(2023)
Review
Immunology
Erica L. Katz, John E. Harris
Summary: Vitiligo is a skin disease characterized by white spots, and significant progress has been made in understanding its pathogenesis over the past 30 years through perseverance, collaboration, and open-minded discussion. Researchers have explored various possible mechanisms through innervation, microvascular anomalies, oxidative stress, defects in melanocyte adhesion, autoimmunity, somatic mosaicism, and genetics, with animal models and improved patient sample collection methods playing important roles in translational studies.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Multidisciplinary Sciences
Lara A. Ray, Steven J. Nieto, Erica N. Grodin
Summary: Alcohol and substance use disorders pose challenges in effective treatment due to their heterogeneous nature. Efforts to classify addiction subtypes and apply neuroscience frameworks have the potential to advance precision medicine in this field. The use of deep behavioral phenotyping in neuroscience-informed batteries shows promise for understanding addiction on a clinical neuroscience level.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2023)
Review
Medicine, General & Internal
Mia T. Minen, Ramisha Aymon, Ishah Yusaf, Khushalee Oza, Jane Ekhtman, Aarti Katara, Naomi Lebowitz, Caitlin Plovnick
Summary: A systematic review of existing undergraduate neurology pipeline programs found that these programs successfully inspire interest in a career in neurology among undergraduate students, providing exposure to relevant opportunities and classroom enrichment.
FRONTIERS IN MEDICINE
(2023)
Article
Clinical Neurology
Serenella Tolomeo, J. Douglas Steele, Hamed Ekhtiari, Alex Baldacchino
Summary: Chronic heroin use can lead to impairments in memory, cognitive impulsivity, and neurological disorders, with limited evidence on recovery after abstinence. Comorbid psychiatric disorders are prevalent, but it is unclear if chronic heroin use directly causes certain mental illnesses. Progress is being made in neuroscience-based interventions for cognitive assessment and remediation, but longitudinal studies are needed to further understand addiction mechanisms.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Article
Clinical Neurology
Joanne Trinh, Theresa Luth, Susen Schaake, Bjorn-Hergen Laabs, Kathleen Schlueter, Joshua Lass, Jelena Pozojevic, Ronnie Tse, Inke Koenig, Roland Dominic Jamora, Raymond L. Rosales, Norbert Brueggemann, Gerard Saranza, Cid Czarina E. Diesta, Frank J. Kaiser, Christel Depienne, Christopher E. Pearson, Ana Westenberger, Christine Klein
Summary: By sequencing the genomes of XDP patients, researchers have discovered various mutations within the repetitive sequence SINE-VNTR-Alu(AGAGGG)(n), which may act as modifiers of disease expression in XDP.
Article
Genetics & Heredity
Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz
Summary: This study investigated patients with dystonic or involuntary movement disorders in two families. Genetic analyses revealed mutations in the MRM2 gene that were associated with the phenotypes.
JOURNAL OF MEDICAL GENETICS
(2023)
Letter
Clinical Neurology
Irene Litvan, Anthony E. Lang, Melissa Armstrong
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Bjoern-Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Christine Klein, Thomas F. Muente, Ana Westenberger, Jean Q. Oropilla, Norbert Brueggemann
Summary: In this study, it was found that X-linked dystonia-parkinsonism has basal ganglia atrophy and iron accumulation before the clinical onset. These findings highlight the potential of early diagnosis and the importance of understanding the prodromal phase of the disease.
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Joanne Trinh, Andrew A. Hicks, Inke R. Koenig, Sylvie Delcambre, Theresa Lueth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilarino-Gueell, Faycel Hentati, Elisabeth L. Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostic, Anthony E. Lang, Norbert Brueggemann, Peter P. Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J. Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Gruenewald
Summary: Trinh et al. found that PINK1/PRKN mutations increase the risk of mitochondrial DNA variant accumulation in a dose- and disease-dependent manner. Monoallelic mutation carriers can be distinguished by the level of heteroplasmic mtDNA variants. Biallelic mutations in PINK1/PRKN lead to recessive Parkinson's disease.
Letter
Clinical Neurology
Tatiana Usnich, Maria Olmedillas, Nathalie Schell, Jefri J. Paul, Filipa Curado, Snezana Skobalj, Ilona Csoti, Sibel Ertan, Doreen Gruber, Simone Zittel, Esther Sammler, Stuart H. Isaacson, Andrea A. Kuehn, David J. Pedrosa, Kathrin Reetz, Meike Kasten, Arndt Rolfs, Peter Bauer, Volha Skrahina, Christine Klein, Norbert Brueggemann
PARKINSONISM & RELATED DISORDERS
(2023)
Letter
Clinical Neurology
Nikolai Gil D. Reyes, Daniel G. Di Luca, Vanda McNiven, Anthony E. Lang
Summary: GNB1 encephalopathy is a rare neuro-developmental syndrome caused by pathogenic variants in the GNB1 gene. It is characterized by global developmental delay and co-occurrence of movement disorders, with dystonia being the most common. Other rare phenomenologies include myoclonus, tics, chorea, ataxia, and oculomotor abnormalities. This case report presents a unique phenotype of GNB1 encephalopathy caused by a de novo mutation in exon 11, with symptoms of dystonia, myoclonus, and vertical supranuclear gaze palsy.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Clinical Neurology
Alfand Marl F. Dy Closas, Katja Lohmann, Ai Huey Tan, Norlinah Mohamed Ibrahim, Jia Lun Lim, Yi Wen Tay, Kalai Arasu Muthusamy, Azlina Binti Ahmad-Annuar, Christine Klein, Shen -Yang Lim
Summary: KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome that commonly progresses from the lower limbs to the upper limbs and eventually affects the craniocervical region. It is now recognized as one of the more common monogenic causes of dystonia syndromes. This report presents an atypical case of DYT-KMT2B with oromandibular dystonia as the initial symptom, which remained localized to this region for three decades. This is the first reported case of DYT-KMT2B from Southeast Asia and provides further evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.
JOURNAL OF MOVEMENT DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Melissa Vos, Christine Klein, Andrew A. Hicks
Summary: Sphingolipids, a subset of bioactive lipids, play a crucial role in proper neuronal function and are involved in almost all biological processes. Recent studies have found alterations in sphingolipids in patients with Parkinson's disease (PD), suggesting an important interaction between sphingolipids and PD-related cellular processes. This article discusses the role of sphingolipids in mitochondrial dysfunction, autophagy defects, and abnormal endosomal activity in PD.
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Article
Clinical Neurology
Antigony Rigas, Tina Mainka, Tamara Pringsheim, Alexander Muenchau, Irene Malaty, Yulia Worbe, Andrea E. Cavanna, Andrew John Lees, Anthony E. Lang, Davide Martino, Christos Ganos
Summary: This study revealed that the diagnostic distinction between primary and functional tics is often difficult, even for expert clinicians, in the absence of clinical information.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Tiago A. Mestre, Michael P. McDermott, Raquel Lobo, Joaquim J. Ferreira, Anthony E. E. Lang
Summary: This study evaluated the "lessebo effect" in disease modification trials in Parkinson's disease and found that it did not exist in these trials. However, the use of placebo instead of an active comparator was a limitation. Prospective measurement of expectation of benefit could help assess the various impacts of placebo use.
MOVEMENT DISORDERS
(2023)
Letter
Clinical Neurology
Anthony E. Lang
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Donald C. Brien, Heidi C. Riek, Rachel Yep, Jeff Huang, Brian Coe, Corson Areshenkoff, David Grimes, Mandar Jog, Anthony Lang, Connie Marras, Mario Masellis, Paula McLaughlin, Alicia Peltsch, Angela Roberts, Brian Tan, Derek Beaton, Wendy Lou, Richard Swartz, Douglas P. Munoz
Summary: A simple and non-invasive test was developed using video-based eye tracking and machine learning, which showed high sensitivity in detecting the stages of Parkinson's Disease and cognitive impairment. The classifier reached a sensitivity of 83% and a specificity of 78%.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Neurosciences
Maria Paulina Castelo Rueda, Alessandra Zanon, Valentina Gilmozzi, Alexandros A. Lavdas, Athina Raftopoulou, Sylvie Delcambre, Fabiola Del Greco, Christine Klein, Anne Gruenewald, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler
Summary: Homozygous or compound heterozygous variants in PRKN are causal for PD with highly penetrant symptom expression, while heterozygous variants may predispose to PD with reduced penetrance, through altered mitochondrial function. We generated lymphoblasts and hiPSC-derived neurons from non-manifesting heterozygous PRKN variant carriers and tested them for mitochondrial functionality. We identified molecular phenotypes that might be used to monitor heterozygous PRKN variant carriers during the prodromal phase and to test potential neuroprotective therapies.
NPJ PARKINSONS DISEASE
(2023)
Article
Clinical Neurology
Daniel G. Di Luca, Carolina Ramirez-Gomez, Jurgen Germann, Brendan Santyr, Alexandre Boutet, Luka Milosevic, Anthony E. Lang, Suneil K. Kalia, Andres M. Lozano, Alfonso Fasano
Summary: This study aimed to evaluate the safety and efficacy of deep brain stimulation on the globus pallidus pars interna and externa in MSA-P patients. The surgery did not result in major complications, but did not provide significant clinical benefit as measured by MDS-UPDRS III.
MOVEMENT DISORDERS
(2023)
