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Safety and Vision Outcomes Following Gene Therapy for Bietti Crystalline Dystrophy: A Nonrandomized Clinical Trial.
JAMA Ophthalmol
January 2025
Xiamen Eye Center of Xiamen University, Xiamen, Fujian, China.
Importance: Bietti crystalline dystrophy (BCD) is a severe genetic retinopathy caused by variants in the CYP4V2 gene. Currently, there is no approved treatment for BCD.
Objective: To evaluate safety and vision outcomes following gene therapy with adeno-associated virus (AAV) encoding CYP4V2 (rAAV-hCYP4V2, NGGT001 [Next Generation Gene Therapeutics]).
Background: Studies suggest that structural changes in the midbrain are linked to Alzheimer's disease (AD) symptoms such as memory, sleep, and emotional disturbances. Brainstem atrophy, particularly in the locus coeruleus, has also been linked with poorer executive function. Studies showing brainstem as one of the first regions affected by AD largely employed novel imaging techniques such as neuromelanin-sensitive MRI, which is limited to research environments.
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Alzheimers Dement
December 2024
Neurochemistry Laboratory, Department of Laboratory Medicine, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, North Holland, Netherlands.
Background: The exact mechanism underlying amyloid-related imaging abnormalities (ARIA) is unknown. Several factors explain ARIA risk, including the presence of microbleeds, APOE4 carriership, and very low Aβ42 levels. The cerebrospinal fluid (CSF) proteome reflects ongoing mechanisms and, thereby, provides an accessible fluid to refine risk of ARIA development.
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Alzheimers Dement
December 2024
Department of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA.
Background: Aging is associated with disruptions in non-rapid eye movement (NREM) sleep and memory decline. Cerebral small vessel disease (CSVD) increases with age and is associated with clinical sleep disturbance, but little is known about its relationship with local expression of NREM sleep. Here, we explore associations between CSVD burden, memory, and local electroencephalography (EEG) measures during NREM sleep in older adults.
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