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Introduction: CLN8-Batten disease is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death. Mutations in CLN8 result in characteristic Batten disease symptoms and brain-wide pathology including accumulation of lysosomal storage material, gliosis, and neurodegeneration. Recent investigations of other subtypes of Batten disease (CLN1, CLN3, CLN6) have emphasized the influence of biological sex on disease and treatment outcomes; however, little is known about sex differences in the CLN8 subtype.
View Article and Find Full Text PDFDifferential tractography identifies a distinct pattern of white matter alterations in essential tremor with or without resting tremor.
Neuroimage Clin
January 2025
Neuroscience Research Center, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy.
Essential Tremor (ET) is characterized by action tremor often associated with resting tremor (rET). Although previous studies have identified widespread brain white matter (WM) alterations in ET patients, differences between ET and rET have been less explored. In this study we employed differential tractography to investigate WM microstructural alterations in these tremor disorders.
View Article and Find Full Text PDFPresentation, Management, and Outcome of Tick-Borne Encephalitis in Patients Referred to Infectious Diseases or Neurology.
J Clin Med
December 2024
Department of Infectious Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
: In Slovenia, patients with suspected tick-borne encephalitis (TBE) were historically referred to infectious diseases (ID), but during the COVID-19 pandemic, there were increased referrals to neurology. This study compared the clinical management of TBE patients between ID specialists and neurologists and assessed patients' outcomes. : We retrospectively reviewed the clinical, laboratory, and imaging data of 318 adult patients with TBE managed by ID (n = 256; 80.
View Article and Find Full Text PDFAssociation Between Common Variants in the / Genes and Risk for Essential Tremor.
Int J Mol Sci
December 2024
Section of Neurology, Hospital Universitario del Sureste, 28500 Arganda del Rey, Spain.
Many clinical, neuroimaging, neuropathological, epidemiological, and genetic data suggest a relationship between essential tremor (ET) and Parkinson's disease (PD). Several hypothesis-based gene association studies attempted to find a genetic association between these diseases. Recent case-control association studies in Chinese and Spanish populations showed a marginal association between the rs1922452 and rs951818 single nucleotide variants (SNVs) and the risk of PD.
View Article and Find Full Text PDFGrey matter volume differences across Parkinson's disease motor subtypes in the supplementary motor cortex.
Neuroimage Clin
December 2024
Division of Neurology, Department of Medicine, Prisma Health-Upstate, Greenville, SC, USA; School of Health Research, Clemson University, Clemson, SC, USA; Department of Health Sciences, University of South Carolina School of Medicine Greenville, Greenville, SC, USA. Electronic address:
Parkinson's Disease (PD) is the second most prevalent neurodegenerative disease worldwide due to loss of dopaminergic neurons projecting from the basal ganglia (BG). It is associated with various motor symptoms that are grouped into subtypes, each with different clinical presentations and disease progressions. Neuroimaging biomarkers focusing on regions a part of motor circuits projecting from the BG can distinguish and improve overall subtyping.
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