Article
Clinical Neurology
Alifiya Kapasi, L. Yu, V Petyuk, K. Arfanakis, D. A. Bennett, J. A. Schneider
Summary: Emerging evidence suggests that small vessel disease (SVD) is a risk factor for clinical dementia and may contribute to AD neuropathological changes. This study found that arteriolosclerosis in watershed brain regions is associated with tau pathological changes, providing compelling evidence for the role of SVD in elderly dementia.
ACTA NEUROPATHOLOGICA
(2022)
Review
Biochemistry & Molecular Biology
Jesus Andrade-Guerrero, Alberto Santiago-Balmaseda, Paola Jeronimo-Aguilar, Isaac Vargas-Rodriguez, Ana Ruth Cadena-Suarez, Carlos Sanchez-Garibay, Glustein Pozo-Molina, Claudia Fabiola Mendez-Catala, Maria-del-Carmen Cardenas-Aguayo, Sofia Diaz-Cintra, Mar Pacheco-Herrero, Jose Luna-Munoz, Luis O. Soto-Rojas
Summary: Alzheimer's disease (AD) is a common neurodegenerative disease that can be familial or sporadic. Genetic mutations in PSEN1, PSEN2, or APP are associated with familial early-onset AD, while sporadic late-onset AD is mainly linked to aging. Many polymorphisms associated with AD have been identified through GWAS. This review aims to analyze the new genetic findings related to AD pathophysiology and the mutations associated with high or low risk of developing this neurodegenerative disease identified by GWAS. Understanding genetic variability can help in early biomarker identification and the development of therapeutic targets for AD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Susanne J. van Veluw, Konstantinos Arfanakis, Julie A. Schneider
Summary: Sporadic cerebral small vessel disease is a major cause of cognitive impairment and dementia in aging brains, characterized by brain small vessel abnormalities and frequently coexisting with Alzheimer disease changes. Ex vivo MRI is a powerful tool to bridge the gap in understanding the underlying neuropathology of MRI-detectable SVD abnormalities.
Article
Neurosciences
Raquel Gutierrez-Zuniga, Ibai Diez, Elisenda Bueicheku, Chan-Mi Kim, William Orwig, Victor Montal, Blanca Fuentes, Exuperio Diez-Tejedor, Maria Gutierrez Fernandez, Jorge Sepulcre
Summary: This study advances understanding of the bidirectional relationships between GM and WM lesions, primary and secondary vascular neurodegeneration, and sheds light on the genetic signatures of SVD.
NEUROBIOLOGY OF DISEASE
(2022)
Review
Clinical Neurology
Yin Allison Liu, Melissa W. Ko, Heather E. Moss
Summary: Tele-neuro-ophthalmology has the potential to increase access to neuro-ophthalmic care by improving efficiency and decreasing the need for long-distance travel for patients. Despite challenges, tele-neuro-ophthalmology formats such as telephone appointments and video visits aim to provide more convenient medical services for patients.
CURRENT OPINION IN NEUROLOGY
(2021)
Article
Clinical Neurology
Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Shoichiro Ando, Hajime Kondo, Akira Hanazono, Akira Iwanaga, Hiroyuki Murota, Yosuke Osakada, Masato Osaki, Masato Kanazawa, Mitsuyasu Kanai, Yoko Shibata, Reiko Saika, Tadashi Miyatake, Hitoshi Aizawa, Takeshi Ikeuchi, Hidekazu Tomimoto, Ikuko Mizuta, Toshiki Mizuno, Tomohiko Ishihara, Osamu Onodera
Summary: This study aimed to clarify the frequency and clinical features of monogenic cerebral small vessel disease (mgCSVD) among patients with adult-onset severe CSVD in Japan. The study found that over 90% of mgCSVD can be diagnosed by screening for NOTCH3, HTRA1, and ABCC6 mutations.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Pedro Coelho, Joao Madureira, Ana Franco, Ana Rita Peralta, Carla Bentes, Alexandre Rainha Campos, Jasper Anink, Eleonora Aronica, Rafael Roque, Jose Pimentel
Summary: This study provides evidence for an increased burden of cerebral small vessel disease in neuropathological samples of patients with chronic epilepsy.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Rachel Waller, Ruth Narramore, Julie E. Simpson, Paul R. Heath, Nikita Verma, Megan Tinsley, Jordan R. Barnes, Hanna T. Haris, Frances E. Henderson, Fiona E. Matthews, Connor D. Richardson, Carol Brayne, Paul G. Ince, Raj N. Kalaria, Stephen B. Wharton
Summary: Age-related white matter lesions (WML) show diverse patterns of neuroinflammation, with an innate response associated with SVD and an immune response linked to WML.
Article
Clinical Neurology
Aliza P. Wingo, Selina M. Vattathil, Jiaqi Liu, Wen Fan, David J. Cutler, Allan Levey, Julie A. Schneider, David A. Bennett, Thomas S. Wingo
Summary: This study found that LDL-C is associated with various neuropathological manifestations of AD independent of APOE, suggesting that LDL-C may be a modifiable risk factor for AD.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Clinical Neurology
Andrew J. Affleck, Perminder S. Sachdev, Glenda M. Halliday
Summary: This study examines the impact of antihypertensive medication use on the severity of neuropathological cerebrovascular disease in older individuals. The results suggest that antihypertensive medication use is associated with less severe white matter small vessel disease. However, there is no significant relationship between medication use and infarction, lacunes, or cerebral amyloid angiopathy. Antihypertensive medication use reduces white matter rarefaction and Aβ propagation through the brain, specifically in individuals with moderate to severe white matter small vessel disease.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Clinical Neurology
Jon-Anders Tunold, Manuela M. X. Tan, Shunsuke Koga, Hanneke Geut, Annemieke J. M. Rozemuller, Rebecca Valentino, Hiroaki Sekiya, Nicholas B. Martin, Michael G. Heckman, Jose Bras, Rita Guerreiro, Dennis W. Dickson, Mathias Toft, Wilma D. J. van de Berg, Owen A. Ross, Lasse Pihlstrom
Summary: The genetic risk of Alzheimer's disease is associated with amyloid and tau accumulation, while Lewy body pathology is increased with a higher burden of Parkinson's disease risk variants affecting the lysosomal pathway.
Letter
Clinical Neurology
Sanjay Budhdeo, Anderson Rodrigues Brandao de Paiva, Charles Wade, Laura Cardia Gomes Lopes, Bruno Della-Ripa, Indran Davagnanam, Leandro Lucato, Catherine J. Mummery, Fernando Kok, Henry Houlden, David J. Werring, David S. Lynch
Summary: This study presents the clinical and imaging characteristics of two Chinese and Brazilian patients with Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). One patient exhibited symptoms such as headache, tinnitus, and cognitive impairment, while the other patient had dysphagia and dysarthria. Magnetic resonance imaging showed extensive brain lesions.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Catherine A. Humphreys, Colin Smith, Joanna M. Wardlaw
Summary: The study found that histopathological assessment of human cerebral small vessel disease is hindered by inconsistent methodological approaches and unstandardised definitions. The data from this systematic review will help to develop standardised definitions to promote consistency in human SVD research.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Kyra D. Neylan, Bruce L. Miller
Summary: Frontotemporal dementia (FTD) is a neurodegenerative syndrome characterized by progressive changes in behavior, personality, executive function, language, and motor function. About 20% of cases have a genetic cause, with three common genetic mutations discussed. Management includes pharmacotherapy and non-pharmacological approaches, with medications for Alzheimer's disease being ineffective and potentially worsening symptoms. Non-pharmacological approaches involve lifestyle modifications, therapy, support, and safety considerations.
Review
Ophthalmology
Meera S. Ramakrishnan, Aubrey L. Gilbert
Summary: The COVID-19 pandemic has accelerated the adoption of tele-neuro-ophthalmology, providing increased access to limited neuro-ophthalmologists. While telemedicine has limitations, progress in technological, legal, and reimbursement strategies may lead to further adoption and integration into healthcare systems.
CURRENT OPINION IN OPHTHALMOLOGY
(2021)
Article
Clinical Neurology
Paul Reidler, Alex Brehm, Peter B. Sporns, Vanessa Granja Burbano, Lena Stueckelschweiger, Gabriel Broocks, Thomas Liebig, Marios-Nikos Psychogios, Jens Ricke, Konstantinos Dimitriadis, Martin Dichgans, Wolfgang G. Kunz, Steffen Tiedt
Summary: The study found that human stroke progression varies across the 24-hour cycle, with patients who have nocturnal stroke onset showing larger infarct core volumes and faster core growth. These findings have implications for the design and interpretation of neuroprotection trials.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Frank Jessen, Steffen Wolfsgruber, Luca Kleineindam, Annika Spottke, Slawek Altenstein, Claudia Bartels, Moritz Berger, Frederic Brosseron, Marcel Daamen, Martin Dichgans, Laura Dobisch, Michael Ewers, Friederike Fenski, Klaus Fliessbach, Silka D. Freiesleben, Wenzel Glanz, Doreen Goerss, Selim Guersel, Daniel Janowitz, Ingo Kilimann, Xenia Kobeleva, Andrea Lohse, Franziska Maier, Coraline Metzger, Matthias Munk, Lukas Preis, Carolin Sanzenbacher, Eike Spruth, Boris Rauchmann, Ruth Vukovich, Renat Yakupov, Anne-Sophie Weyrauch, Gabriel Ziegler, Matthias Schmid, Christoph Laske, Robert Perneczky, Anja Schneider, Jens Wiltfang, Stefan Teipel, Katharina Buerger, Josef Priller, Oliver Peters, Alfredo Ramirez, Henning Boecker, Michael T. Heneka, Michael Wagner, Emrah Duezel
Summary: Research finds that subjective cognitive decline (SCD) in individuals who seek medical help may serve as an initial symptomatic stage 2 of the Alzheimer's disease (AD) continuum. The SCD group shows slightly worse cognition, as well as more subtle functional and behavioral symptoms compared to the control group (CO). It is also discovered that SCD-A+ cases (39.3% of all SCD) exhibit greater hippocampal atrophy, lower cognitive and functional performance, and more behavioral symptoms.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Marios K. Georgakis, Rong Fang, Marco Duering, Frank A. Wollenweber, Felix J. Bode, Sebastian Stoesser, Christine Kindlein, Peter Hermann, Thomas G. Liman, Christian H. Nolte, Lucia Kerti, Benno Ikenberg, Kathleen Bernkopf, Holger Poppert, Wenzel Glanz, Valentina Perosa, Daniel Janowitz, Michael Wagner, Katja Neumann, Oliver Speck, Laura Dobisch, Emrah Duezel, Benno Gesierich, Anna Dewenter, Annika Spottke, Karin Waegemann, Michael Goertler, Silke Wunderlich, Matthias Endres, Inga Zerr, Gabor Petzold, Martin Dichgans
Summary: The global burden of small vessel disease (SVD) predicts cognitive and functional outcomes in stroke patients, but the current score used for assessment does not improve prediction capability. Assessing the severity of SVD lesions adds value in predicting outcomes beyond known predictors.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Anna Dewenter, Mina A. Jacob, Mengfei Cai, Benno Gesierich, Paul Hager, Anna Kopczak, Davina Biel, Michael Ewers, Anil M. Tuladhar, Frank-Erik De Leeuw, Martin Dichgans, Nicolai Franzmeier, Marco Duering
Summary: Fixel-based analysis of diffusion MRI can identify changes in white matter integrity. Neurodegeneration in Alzheimer's disease affects white matter macrostructure, while cerebral small vessel disease affects white matter microstructure. Fiber density reflects the impact of cerebral small vessel disease, while fiber-bundle cross-section is primarily determined by neurodegeneration.
Review
Immunology
M. Kathryn Liszewski, John P. Atkinson
Summary: The alternative pathway (AP) is an important immune response mechanism, but its amplification and sustained activation may lead to diseases and harm human health. Genetic factors related to complement and chronic inflammatory processes are found to be associated with many diseases. Therefore, understanding the alternative pathway and developing novel therapeutic approaches is crucial for human health.
IMMUNOLOGICAL REVIEWS
(2023)
Review
Clinical Neurology
Irene de Boer, Iris Elsa Verhagen, Marcio Nattan Portes Souza, Messoud Ashina
Summary: New acute therapies such as ditans and gepants may be effective alternatives for patients who cannot use or do not respond to triptans. However, further studies are needed to determine their place and safety in migraine treatment.
Review
Clinical Neurology
Olivia Begasse de Dhaem, Anne-Sophie Wattiez, Irene de Boer, Sara Pavitt, Scott W. Powers, Amynah Pradhan, Amy A. Gelfand, Hadas Nahman-Averbuch
Summary: This review provides an overview of research methods in various subfields of headache and headache research, as well as clinical practice. It aims to promote dialogue between clinicians and researchers, and to guide future research efforts and implementation of research findings into clinical practice.
Article
Clinical Neurology
Jasmin Annica Keller, Sigurdur Sigurdsson, Kelly Klaassen, Lydiane Hirschler, Mark A. A. van Buchem, Lenore J. J. Launer, Matthias J. P. van Osch, Vilmundur Gudnason, Jeroen H. J. M. de Bresser
Summary: This study aimed to investigate the association between the shape and volume of white matter hyperintensity (WMH) and the long-term risk of dementia in community-dwelling older adults. The results showed that an irregular shape of periventricular/confluent WMH, higher WMH volume, and higher deep WMH volume were associated with an increased risk of dementia.
ALZHEIMERS & DEMENTIA
(2023)
Review
Clinical Neurology
Nadine Pelzer, Irene de Boer, Arn M. J. M. van den Maagdenberg, Gisela M. Terwindt
Summary: This narrative review discusses common neurological and psychiatric disorders that often coexist with migraine, providing insights into their shared mechanisms and implications for treatment.
Article
Neurosciences
Neven Maksemous, Aster V. E. Harder, Omar Ibrahim, Lisanne S. Vijfhuizen, Heidi Sutherland, Nadine Pelzer, Irene de Boer, Gisela M. Terwindt, Rodney A. Lea, Arn M. J. M. van den Maagdenberg, Lyn R. Griffiths
Summary: Hemiplegic migraine (HM) is a rare subtype of migraine with aura. The study found that HM patients without a mutation in the CACNA1A gene family have an increased burden of missense variants in the CACNA1E, CACNA1H, and CACNA1I genes. This suggests that HM, in the absence of a single causal mutation, may be influenced by an increased burden of missense variants in CACNA1H and CACNA1I.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Clinical Neurology
Bendik Winsvold, Aster V. E. A. Harder, Caroline Ran, Mona Chalmer, Maria Carolina Dalmasso, Egil Ferkingstad, Kumar Parijat Tripathi, Elena Bacchelli, Sigrid Borte, Carmen S. Fourier, Anja H. Petersen, Lisanne Vijfhuizen, Sigurdur Magnusson, Emer O'Connor, Gyda Bjornsdottir, Paavo Happola, Yen-Feng Wang, Ida Callesen, Tim Kelderman, Victor J. Gallardo, Irene de Boer, Felicia Jennysdotter Olofsgard, Katja Heinze, Nunu Lund, Laurent F. Thomas, Chia-Lin Hsu, Matti Pirinen, Heidi Hautakangas, Marta Ribases, Simona Guerzoni, Prasanth Sivakumar, Janice Yip, Axel Heinze, Fahri B. Kucukali, Sisse S. Ostrowski, Ole E. Pedersen, Espen S. Kristoffersen, Amy E. Martinsen, Maria S. Artigas, Susie Lagrata, Maria Michela Cainazzo, Joycee Adebimpe, Olivia Quinn, Carl E. Goebel, Anna Cirkel, Alexander Volk, Stefanie E. Heilmann-Heimbach, Anne Heidi Skogholt, Maiken E. Gabrielsen, Leopoldine A. Wilbrink, Daisuke Danno, Dwij R. Mehta, Daniel F. Guobjartsson, Frits R. Rosendaal, Ko Willems van Dijk, Rolf A. Fronczek, Michael Wagner, Martin Scherer, Hartmut A. Goebel, Kristel Sleegers, Olafur Sveinsson, Luca Pani, Michele Zoli, Josep A. Ramos-Quiroga, Efthimios Dardiotis, Anna Steinberg, Steffi Riedel-Heller, Christina Sjostrand, Thorgeir E. Thorgeirsson, Hreinn Stefansson, Laura Southgate, Richard C. Trembath, Jana Vandrovcova, Raymond Noordam, Koen H. Paemeleire, Kari Stefansson, Cathy Shen-Jang Fann, Elisabet Waldenlind, Erling Tronvik, Rigmor H. Jensen, Shih-Pin Chen, Henry Houlden, Gisela C. Terwindt, Christian Kubisch, Elena Maestrini, Michail Vikelis, Patricia Pozo-Rosich, Andrea C. Belin, Manjit Matharu, Arn M. J. M. van den Maagdenberg, Thomas F. Hansen, Alfredo Ramirez, John-Anker Zwart
Summary: This first genomewide association study meta-analysis provides clues to the biological basis of cluster headache and identifies smoking as a causal risk factor.
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Irene de Boer, Anna Ambrosini, Rashmi B. Halker Singh, Betul Baykan, Dawn C. Buse, Cristina Tassorelli, Rigmor H. Jensen, Patricia Pozo-Rosich, Gisela M. Terwindt
Summary: Workplace harassment is a prevalent issue among headache professionals, especially for women. This study calls for strategies to be implemented in order to create a healthy and safe work environment.
Article
Clinical Neurology
Simone de Vries Lentsch, Britt W. H. van Der Arend, Irene de Boer, Erik W. van Zwet, Antoinette Maassenvandenbrink, Gisela M. Terwindt
Summary: Anti-CGRP antibodies have a positive effect on depressive symptoms in patients with migraine and depression can predict treatment response in some cases.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)