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NR2E3-Associated Retinopathy Presenting with Bilateral Choroidal Neovascularization.
Retin Cases Brief Rep
October 2024
Singapore National Eye Centre, Singapore.
Purpose: We describe an atypical presentation of an 11-year-old female with enhanced S-cone syndrome (ESCS).
Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as colour fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein and indocyanine angiography, an electroretinogram and genetic testing.
Biomarkers.
Alzheimers Dement
December 2024
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.
Background: There is a strong link between tau and progression of Alzheimer's disease (AD), necessitating an understanding of tau spreading mechanisms. Prior research, predominantly in typical AD, suggested that tau propagates from epicenters (regions with earliest tau) to functionally connected regions. However, given the constrained spatial heterogeneity of tau in typical AD, validating this connectivity-based tau spreading model in AD variants with distinct tau deposition patterns is crucial.
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Alzheimers Dement
December 2024
Instituto Neurológico de Colombia, Medellin, Antioquia, Colombia.
Background: This study examines an exceptional case of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a hereditary cerebrovascular disease caused by a mutation in the notch3 gene. In contrast to typical cases manifesting before the age of 50 with migraines, this report highlights an atypical presentation in a 70-year-old woman with no history of migraines nor cognitive impairment.
Method: The patient, with a history of type 2 diabetes, hypothyroidism, and dyslipidemia, was initially treated for cognitive impairment and behavioral changes under suspicion of autoimmune encephalitis.
Biomarkers.
Alzheimers Dement
December 2024
University of California San Francisco (UCSF), San Francisco, CA, USA.
Background: As new anti-amyloid immunotherapies emerge for Alzheimer's disease (AD), it is clear that early diagnosis of AD pathology is crucial for treatment success. This can be challenging in atypical presentations of AD and, together with our reliance on CSF or PET scans, can, at times, lead to delayed diagnosis. Here, we further explore the possible role of plasma tau phosphorylated at threonine 217 (P-tau217) for the detection of primary AD or AD co-pathology when frontotemporal dementia spectrum disorders are the main clinical presentation.
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Alzheimers Dement
December 2024
Università degli studi di Genova, Genova, Liguria, Italy.
Background: Alzheimer's disease (AD) is the most common form of dementia, predominantly manifesting as amnestic impairment. However, atypical presentations such as logopenic variant of primary progressive aphasia (lvPPA), posterior cortical atrophy (PCA), corticobasal syndrome (CBS) and frontal AD pose diagnostic challenges. This study presents preliminary data from a retrospective analysis investigating brain functional differences between typical and atypical AD forms.
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