Childhood-onset Huntignton ´s disease. A rare presentation
CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.PMID:38416505 | DOI:10.33588/rn.7805.2024039 (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 28, 2024 Category: Neurology Authors: A Gauto E Bellantonio P Pedernera-Bradichansky P Cafiero E Rodriguez P Massaro Source Type: research
Childhood-onset Huntignton ´s disease. A rare presentation
CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.PMID:38416505 | DOI:10.33588/rn.7805.2024039 (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 28, 2024 Category: Neurology Authors: A Gauto E Bellantonio P Pedernera-Bradichansky P Cafiero E Rodriguez P Massaro Source Type: research
Childhood-onset Huntignton ´s disease. A rare presentation
CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.PMID:38416505 | DOI:10.33588/rn.7805.2024039 (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 28, 2024 Category: Neurology Authors: A Gauto E Bellantonio P Pedernera-Bradichansky P Cafiero E Rodriguez P Massaro Source Type: research
Childhood-onset Huntignton ´s disease. A rare presentation
CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.PMID:38416505 | DOI:10.33588/rn.7805.2024039 (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 28, 2024 Category: Neurology Authors: A Gauto E Bellantonio P Pedernera-Bradichansky P Cafiero E Rodriguez P Massaro Source Type: research
Childhood-onset Huntignton ´s disease. A rare presentation
CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.PMID:38416505 | DOI:10.33588/rn.7805.2024039 (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 28, 2024 Category: Neurology Authors: A Gauto E Bellantonio P Pedernera-Bradichansky P Cafiero E Rodriguez P Massaro Source Type: research
Childhood-onset Huntignton ´s disease. A rare presentation
CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.PMID:38416505 | DOI:10.33588/rn.7805.2024039 (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 28, 2024 Category: Neurology Authors: A Gauto E Bellantonio P Pedernera-Bradichansky P Cafiero E Rodriguez P Massaro Source Type: research
Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington ’s disease
We previously identified solute carrier family 7 member 2 (SLC7A2) as one of the top upregulated genes when normal Huntingtin was deleted. SLC7A2 has a high affinity for l-arginine. Arginine is implicated in infl... (Source: Journal of Neuroinflammation)
Source: Journal of Neuroinflammation - February 28, 2024 Category: Neurology Authors: Ian D. Gaudet, Hongyuan Xu, Emily Gordon, Gianna A. Cannestro, Michael L. Lu and Jianning Wei Tags: Research Source Type: research
NMDA receptor-mediated Ca < sup > 2+ < /sup > signaling: Impact on cell cycle regulation and the development of neurodegenerative diseases and cancer
Cell Calcium. 2024 Feb 14;119:102856. doi: 10.1016/j.ceca.2024.102856. Online ahead of print.ABSTRACTNMDA receptors are Ca2+-permeable ligand-gated ion channels that mediate fast excitatory transmission in the central nervous system. NMDA receptors regulate the proliferation and differentiation of neural progenitor cells and also play critical roles in neural plasticity, memory, and learning. In addition to their physiological role, NMDA receptors are also involved in glutamate-mediated excitotoxicity, which results from excessive glutamate stimulation, leading to Ca2+ overload, and ultimately to neuronal death. Thus, NMDA...
Source: Cell Calcium - February 26, 2024 Category: Cytology Authors: Ana L Gonz ález-Cota Daniel Mart ínez-Flores Margarita Jacaranda Rosendo-Pineda Luis Vaca Source Type: research
Microglia in brain aging: An overview of recent basic science and clinical research developments
J Biomed Res. 2023 Dec 31:1-15. doi: 10.7555/JBR.37.20220220. Online ahead of print.ABSTRACTAging is characterized by progressive degeneration of tissues and organs, and it is positively associated with an increased mortality rate. The brain, as one of the most significantly affected organs, experiences age-related changes, including abnormal neuronal activity, dysfunctional calcium homeostasis, dysregulated mitochondrial function, and increased levels of reactive oxygen species. These changes collectively contribute to cognitive deterioration. Aging is also a key risk factor for neurodegenerative diseases, such as Alzheim...
Source: Biomed Res - February 25, 2024 Category: Research Authors: Haixia Fan Minheng Zhang Jie Wen Shengyuan Wang Minghao Yuan Houchao Sun Liu Shu Xu Yang Yinshuang Pu Zhiyou Cai Source Type: research
Corrigendum to "Reducing huntingtin by immunotherapy delays disease progression in a mouse model of Huntington disease" [Neurobiology of Disease, 2024 Jan:190:106376]
Neurobiol Dis. 2024 Feb 23:106444. doi: 10.1016/j.nbd.2024.106444. Online ahead of print.NO ABSTRACTPMID:38402018 | DOI:10.1016/j.nbd.2024.106444 (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - February 24, 2024 Category: Neurology Authors: Stefan Bartl Yuanyun Xie Nalini Potluri Ratnesh Kesineni Katlin Hencak Louisa Dal Cengio Katja Balazs Abid Oueslati Michela Parth Nina Salhat Alberto Siddu Oskar Smrzka Francesca Cicchetti G ünther Staffler Michael R Hayden Amber L Southwell Source Type: research
Corrigendum to "Reducing huntingtin by immunotherapy delays disease progression in a mouse model of Huntington disease" [Neurobiology of Disease, 2024 Jan:190:106376]
Neurobiol Dis. 2024 Feb 23:106444. doi: 10.1016/j.nbd.2024.106444. Online ahead of print.NO ABSTRACTPMID:38402018 | DOI:10.1016/j.nbd.2024.106444 (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - February 24, 2024 Category: Neurology Authors: Stefan Bartl Yuanyun Xie Nalini Potluri Ratnesh Kesineni Katlin Hencak Louisa Dal Cengio Katja Balazs Abid Oueslati Michela Parth Nina Salhat Alberto Siddu Oskar Smrzka Francesca Cicchetti G ünther Staffler Michael R Hayden Amber L Southwell Source Type: research
Orphan GPR52 as an emerging neurotherapeutic target
Drug Discov Today. 2024 Feb 20:103922. doi: 10.1016/j.drudis.2024.103922. Online ahead of print.ABSTRACTGPR52 is a highly conserved, brain-enriched, Gs/olf-coupled orphan G protein-coupled receptor (GPCR) that controls various cyclic AMP (cAMP)-dependent physiological and pathological processes. Stimulation of GPR52 activity might be beneficial for the treatment of schizophrenia, psychiatric disorders and other human neurological diseases, whereas inhibition of its activity might provide a potential therapeutic approach for Huntington's disease. Excitingly, HTL0048149 (HTL'149), an orally available GPR52 agonist, has been ...
Source: Drug Discovery Today - February 22, 2024 Category: Drugs & Pharmacology Authors: Saghir Ali Pingyuan Wang Ryan E Murphy John A Allen Jia Zhou Source Type: research
Orphan GPR52 as an emerging neurotherapeutic target
Drug Discov Today. 2024 Feb 20:103922. doi: 10.1016/j.drudis.2024.103922. Online ahead of print.ABSTRACTGPR52 is a highly conserved, brain-enriched, Gs/olf-coupled orphan G protein-coupled receptor (GPCR) that controls various cyclic AMP (cAMP)-dependent physiological and pathological processes. Stimulation of GPR52 activity might be beneficial for the treatment of schizophrenia, psychiatric disorders and other human neurological diseases, whereas inhibition of its activity might provide a potential therapeutic approach for Huntington's disease. Excitingly, HTL0048149 (HTL'149), an orally available GPR52 agonist, has been ...
Source: Drug Discovery Today - February 22, 2024 Category: Drugs & Pharmacology Authors: Saghir Ali Pingyuan Wang Ryan E Murphy John A Allen Jia Zhou Source Type: research
The value of re-evaluation and thorough family history taking for the diagnostic work-up of chorea
Tijdschr Psychiatr. 2024;66(1):51-54.ABSTRACTThe differential diagnosis of chorea encompasses a broad range of disorders. In psychiatry, tardive dyskinesia may be difficult to discern from other causes, particularly when the family history is negative. A 59-year-old man with an unclear medical history had been using risperidone for over a decade when we first saw him. He presented with severe dyskinesia in all extremities. The family history for neuropsychiatric disorders was negative. We interpreted the movement disorder as tardive dyskinesia, but later he turned out to suffer from Huntington’s disease. To impro...
Source: Tijdschrift voor Psychiatrie - February 21, 2024 Category: Psychiatry Authors: J J Luykx E van Duijn B Geerdinck E Burgers H P H Kremer R Veenhuizen Source Type: research
The potential roles of salivary biomarkers in neurodegenerative diseases
Neurobiol Dis. 2024 Feb 19:106442. doi: 10.1016/j.nbd.2024.106442. Online ahead of print.ABSTRACTCurrent research efforts on neurodegenerative diseases are focused on identifying novel and reliable biomarkers for early diagnosis and insight into disease progression. Salivary analysis is gaining increasing interest as a promising source of biomarkers and matrices for measuring neurodegenerative diseases. Saliva collection offers multiple advantages over the currently detected biofluids as it is easily accessible, non-invasive, and repeatable, allowing early diagnosis and timely treatment of the diseases. Here, we review the...
Source: Neurobiology of Disease - February 21, 2024 Category: Neurology Authors: Ling-Ling Jiao Hui-Lin Dong Meng-Meng Liu Peng-Lin Wu Yi Cao Yuan Zhang Fu-Gao Gao Huai-Yuan Zhu Source Type: research
