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Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions.
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDF"Groupitizing": A Visuo-Spatial and Arithmetic Phenomenon.
Open Mind (Camb)
January 2025
Department of Neuroscience, Psychology, Pharmacology, and Child Health, University of Florence, Florence, Italy.
When objects are grouped in space, humans can estimate numerosity more precisely than when they are randomly scattered. This phenomenon, called groupitizing, is thought to arise from the interplay of two components: the subitizing system which identifies both the number of subgroups and of items within each group, and the possibility to perform basic arithmetic operations on the subitized groups. Here we directly investigate the relative role of these two components in groupitizing via an interference (dual task) paradigm.
View Article and Find Full Text PDFRare mixed dementia: A case report.
World J Radiol
January 2025
Laboratory of Functional Chemistry and Nutrition of Food, Northwest A&F University, Yangling 712100, Shanxi Province, China.
Background: Autoimmune encephalitis (AE) is a rare and recently described neuroinflammatory disease associated with specific autoantibodies. Anti-leucine-rich glioma inactivated 1 (anti-LGI1) encephalitis is a rare but treatable type of AE discovered in recent years. Alzheimer's disease (AD) is a degenerative brain disease and the most common cause of dementia.
View Article and Find Full Text PDFA retrospective analysis on maternal and neonatal outcomes in pSS/AITD pregnancies.
Sci Rep
January 2025
Department of Obstetrics, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology, Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory of Maternal-Fetal Medicine, The Third Affiliated Hospital, Guangzhou Medical University, Guangzhou, 510150, China.
The combined impact of concurrent primary Sjögren's syndrome (pSS) and autoimmune thyroid disease (AITD) on pregnancy outcomes remains underreported. A retrospective analysis was conducted on 115 pregnant patients diagnosed with pSS and delivering at the Third Affiliated Hospital of Guangzhou Medical University from January 2009 to July 2023. The effects of AITD on maternal and neonatal outcomes were examined and compared to a control group without AITD.
View Article and Find Full Text PDFFirst-in-human experience performing high-resolution cortical mapping using a novel microelectrode array containing 1,024 electrodes.
J Neural Eng
January 2025
Precision Neuroscience, 54 W 21st Street, New York, New York, 10010, UNITED STATES.
Localization of function within the brain and central nervous system is an essential aspect of clinical neuroscience. Classical descriptions of functional neuroanatomy provide a foundation for understanding the functional significance of identifiable anatomic structures. However, individuals exhibit substantial variation, particularly in the presence of disorders that alter tissue structure or impact function.
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