Article
Biochemistry & Molecular Biology
Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Giuseppe Lanza, Mariagiovanna Cantone, Raffaele Ferri, Carmela Scuderi
Summary: This study investigated the frequency of POLG gene mutations in neurodegenerative disorders. The results showed the presence of the heterozygous Y831C mutation in two patients with frontotemporal dementia and Lewy body dementia. The allele frequency of this mutation in the patient group was 3.03%, which was significantly different from the 0.22% reported in the healthy population, supporting the hypothesis of a pathogenic role of the Y831C mutation in neurodegeneration.
Article
Multidisciplinary Sciences
Haikun Song, Cen Wang, Chenggang Zhu, Ziying Wang, Huiya Yang, Peng Wu, Xiaotian Cui, Juan Botas, Yongjun Dang, Yu Ding, Yiyan Fei, Boxun Lu
Summary: Chemical binders targeting mutant huntingtin protein (mHTT) have the potential to inhibit Huntington's disease (HD) by destabilizing the protein through enhancing its polyubiquitination.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Biochemistry & Molecular Biology
I. Basak, H. E. Wicky, K. O. McDonald, J. B. Xu, J. E. Palmer, H. L. Best, S. Lefrancois, S. Y. Lee, L. Schoderboeck, S. M. Hughes
Summary: Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease caused by mutations in thirteen CLN genes. Mutations in the CLN5 gene lead to a form of variant late-infantile NCL, with widespread protein expression in various tissues. Research on CLN5 helps to understand lysosomal biology and develop efficient therapies for CLN5 Batten disease.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Clinical Neurology
Christoph Helmstaedter, Teresa Lutz, Vinzent Wolf, Juri-Alexander Witt
Summary: This study aimed to determine the prevalence of dementia diagnoses among patients at a large university epilepsy center. The findings showed that the prevalence of dementia in epilepsy is relatively low. However, the risk of dementia is higher in the elderly, in late-onset epilepsies, and when comorbid risk factors exist. Seizures can also be an early sign of a neurodegenerative disease. Future research should focus on screening for dementia in patients with epilepsy and stratifying them based on underlying pathologies and comorbidities.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Leonidas Chouliaras, Alan Thomas, Maura Malpetti, Paul Donaghy, Joseph Kane, Elijah Mak, George Savulich, Maria A. Prats-Sedano, Amanda J. Heslegrave, Henrik Zetterberg, Li Su, James Benedict Rowe, John Tiernan O'Brien
Summary: This study compared plasma biomarkers for neurodegenerative diseases in different patient groups and found that p-tau181 was elevated in MCI+AD patients with high accuracy in differentiating between different types of dementia. NfL was elevated in all dementia groups, while GFAP was elevated in MCI+AD and LBD.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Clinical Neurology
Sonia Di Tella, Maria RIta Lo Monaco, Martina Petracca, Paola Zinzi, Marcella Solito, Carla Piano, Paolo Calabresi, Maria Caterina Silveri, Anna Rita Bentivoglio
Summary: Huntington's disease (HD) is a genetic neurodegenerative disease with onset typically in the fourth or fifth decade of life, but the CAG repeat number only accounts for about 70% of the variability in age of onset. In addition to genetics, demographic, anamnestic, and socio-environmental factors may also influence the age of onset in HD.
JOURNAL OF NEUROLOGY
(2022)
Review
Cell Biology
Marcel Klein, Guido Hermey
Summary: Evidence from genetics and cellular and animal models suggests a link between early and late neurodegenerative disorders. This review summarizes the connection between Alzheimer's disease and neuronal ceroid lipofuscinoses. Genetic studies have found overlapping mutations between clinically diagnosed Alzheimer's and neuronal ceroid lipofuscinoses. Dysfunctions in intracellular trafficking mechanisms and the autophagy-endolysosome system are believed to be shared cytopathological processes. Understanding these common mechanisms is important for finding therapeutic targets and tailored treatments.
NEURAL REGENERATION RESEARCH
(2023)
Review
Neurosciences
Sabiya Samim Khan, Gopal L. Khatik, Ashok K. Datusalia
Summary: Memory, cognition, dementia, and neurodegeneration are complexly interlinked processes with various mechanistic pathways, which are associated with pathological conditions and require timely diagnosis and management. Different interventions, including non-pharmacological and pharmacological approaches, have been critically analyzed to target molecular pathways and improve cognitive function. However, the understanding of pathological mechanisms in neurological conditions is still lacking, leading to the dropouts of agents in clinical trials. A better understanding of disease biology and mechanisms at a molecular level is essential.
CURRENT NEUROPHARMACOLOGY
(2023)
Article
Neurosciences
Paolo Solla, Carla Masala, Tommaso Ercoli, Gianni Orofino, Francesco Loy, Ilenia Pinna, Laura Fadda, Giovanni Defazio
Summary: This study found significant olfactory dysfunction in PD patients with the akinetic-rigid dominant (ARD) subtype, with a lower odor threshold compared to the tremor-dominant (TD) subtype. There may be different pathophysiological mechanisms between the different clinical subtypes of PD.
Review
Neurosciences
Georgia Pateraki, Konstantinos Anargyros, Athina-Maria Aloizou, Vasileios Siokas, Christos Bakirtzis, Ioannis Liampas, Zisis Tsouris, Pinelopi Ziogka, Markos Sgantzos, Vasiliki Folia, Eleni Peristeri, Efthimios Dardiotis
Summary: Transcranial magnetic stimulation (TMS) is a non-invasive brain stimulation technique that can be used to treat various movement disorders by altering brain activity. It has few side effects and long-lasting effects, making it a promising new approach for these diseases.
JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY
(2022)
Review
Neurosciences
Alessandro Stefani, Mariangela Pierantozzi, Silvia Cardarelli, Lucrezia Stefani, Rocco Cerroni, Matteo Conti, Elena Garasto, Nicola B. Mercuri, Carmine Marini, Patrizia Sucapane
Summary: Magnetic Resonance-guided Focused Ultrasound (MRgFUS) is an effective micro-lesioning approach for pharmaco-resistant tremors, with potential applications in the treatment of Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis. It can also be used to temporarily open the blood-brain barrier, providing opportunities for drug delivery and cognitive improvement.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Neurosciences
Monica Alba Ahullo-Fuster, Tomas Ortiz, Enrique Varela-Donoso, Juan Nacher, M. Luz Sanchez-Sanchez
Summary: This article discusses the impact of disabilities such as Alzheimer's disease (AD) and visually impairing eye diseases on the functions of the parietal lobe. It suggests that studying the neuroplasticity of the parietal lobe may help reduce the risk of neurodegenerative diseases in older populations.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Review
Biochemistry & Molecular Biology
Luca Marsili, Jennifer Sharma, Tiago Fleming Outeiro, Carlo Colosimo
Summary: Stem cell-based therapies (SCT) have potential in treating neurodegenerative disorders, but clinical trials are just starting and results may take several years. SCTs can provide both symptomatic and disease-modifying effects, and may complement molecular therapies in precision medicine.
Article
Plant Sciences
Sueun Lee, Seung Mok Ryu, Do-Hyun Kim, Ye Eun Lee, Sung-Jun Lee, Sohi Kang, Joong Sun Kim, Soong-In Lee
Summary: The study aimed to evaluate the therapeutic efficacy of GDT for TMT-induced hippocampal neurodegeneration and seizures at the molecular level.
JOURNAL OF ETHNOPHARMACOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Eric Guedj, Andrea Varrone, Ronald Boellaard, Nathalie L. Albert, Henryk Barthel, Bart van Berckel, Matthias Brendel, Diego Cecchin, Ozgul Ekmekcioglu, Valentina Garibotto, Adriaan A. Lammertsma, Ian Law, Ivan Penuelas, Franck Semah, Tatjana Traub-Weidinger, Elsmarieke van de Giessen, Donatienne Van Weehaeghe, Silvia Morbelli
Summary: The guidelines summarize the current views of the EANM Neuro-Imaging Committee on [F-18]FDG-PET imaging of the brain, aiming to improve diagnostic impact in neurological, neurosurgical, and psychiatric practice. Updates include advances in PET technology, the impact of hyperglycemia in patients undergoing brain [F-18]FDG-PET, and typical brain metabolic patterns for neurodegenerative diseases.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2022)
