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Essential tremor with tau pathology features seeds indistinguishable in conformation from Alzheimer's disease and primary age-related tauopathy.
Acta Neuropathol
January 2025
Center for Alzheimer's and Neurodegenerative Diseases, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Neurodegenerative tauopathies are characterized by the deposition of distinct fibrillar tau assemblies, whose rigid core structures correlate with defined neuropathological phenotypes. Essential tremor (ET) is a progressive neurological disorder that, in some cases, is associated with cognitive impairment and tau accumulation. In this study, we explored tau assembly conformation in ET patients with tau pathology using cytometry-based tau biosensor assays.
View Article and Find Full Text PDFBiliverdinuria Caused by Exonic Deletions in Two Dogs with Green Urine.
Genes (Basel)
November 2024
Clinic for Small Animal Internal Medicine, Vetsuisse Faculty University of Zürich, 8057 Zürich, Switzerland.
In heme degradation, biliverdin reductase catalyzes the conversion of biliverdin to bilirubin. Defects in the biliverdin reductase A gene () causing biliverdinuria are extraordinarily rare in humans, and this inborn error of metabolism has not been reported in other mammals. The objective of this study was to diagnose biliverdinuria and identify the causal variants in two adult mixed-breed dogs with life-long green urine.
View Article and Find Full Text PDFFirst psychometric evaluation of the Mexican Spanish version of the 11-item BPFSC-11 and convergence with maladaptive self and interpersonal functioning.
Personal Ment Health
February 2025
Department of Child and Adolescent Psychiatry, University Clinics Saarland, Homburg, Germany.
Background: The Borderline Personality Features Scale for Children (BPFSC-11) is a well-used, short, and easy-to-administer measure of borderline traits in young people. The aim of the current study was to evaluate the psychometric properties of the Mexican Spanish version of the BPFSC-11 in a large community-based sample of Mexican adolescents. In addition, we evaluated the convergence between the borderline construct as measured by the BPFSC-11 and general personality functioning consistent with more contemporary personality disorder formulations to assess the nomological net of the BPFSC-11 total score.
View Article and Find Full Text PDFCuneus atrophy and Parkinsonian phenoconversion in cognitively unimpaired patients with isolated REM sleep behavior disorder.
J Neurol
December 2024
Department of Nuclear Medicine & PET Centre, J220, Aarhus University Hospital, Palle Juul-Jensens Boulevard 165, Aarhus, Denmark.
Isolated rapid-eye-movement sleep behavior disorder (iRBD) is a strong predictor of Parkinson's disease and Dementia with Lewy bodies. Previous studies indicate that cortical atrophy in iRBD patients may be linked to cognitive impairment, but the pattern of atrophy is inconsistently reported. This study aimed to elucidate cortical atrophy patterns in a cognitively unimpaired iRBD cohort, focusing on regions associated with cognitive functions, particularly the cuneus/precuneus, and evaluated the predictive value for future phenoconversion.
View Article and Find Full Text PDFIncreased Plasma -Secretase 1 Activity Correlates With Neurodegeneration in Cerebral Small Vessel Disease.
J Am Heart Assoc
December 2024
Department of Neurology, National Center for Neurological Disorders, National Clinical Research Center for Aging and Medicine Huashan Hospital, Fudan University Shanghai China.
Background: -secretase 1 (BACE1) plays a key role in amyloidogenic pathway and is considered a new mechanism for cerebral small vessel disease (CSVD). We explore the potential role of plasma BACE1 in CSVD and the pathological process it may be involved in.
Methods And Results: We enrolled 163 participants with CSVD (114 cerebral amyloid angiopathy and 49 hypertensive hemorrhage), and 96 cognitively unimpaired elders and 40 participants with Alzheimer's disease as controls.
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