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A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Sci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
View Article and Find Full Text PDFGenetic Predisposition to Hippocampal Atrophy and Risk of Amnestic Mild Cognitive Impairment and Alzheimer's Dementia.
Geriatrics (Basel)
January 2025
1st Department of Neurology, Aiginition Hospital, National and Kapodistrian University of Athens Medical School, 11528 Athens, Greece.
Background: There is a paucity of evidence on the association between genetic propensity for hippocampal atrophy with cognitive outcomes. Therefore, we examined the relationship of the polygenic risk score for hippocampal atrophy (PRShp) with the incidence of amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD) as well as the rates of cognitive decline.
Methods: Participants were drawn from the population-based HELIAD cohort.
SPING Block Analgesia in Non-Operative Management of Proximal Femur Fractures in Older Adults Living with Frailty: A Retrospective Cohort Study.
Geriatrics (Basel)
January 2025
Department of Pain Medicine and Palliative Care, Amphia Hospital, 4818 CK Breda, The Netherlands.
: Spinal Phenol IN Glycerol (SPING) block is a novel palliative pain treatment for the non-operative management of proximal femur fractures (PFFs) in older adults living with frailty. Effective pain management that aligns with patient preferences and minimizes opioid use is critical in this setting. This study evaluated the patient, safety, and process outcomes of SPING block in this population.
View Article and Find Full Text PDFHearing and cognitive scores measured with the Montreal Cognitive Assessment Scale in The HUNT Study, Norway.
Alzheimers Dement
January 2025
Norwegian National Centre for Ageing and Health, Vestfold Hospital Trust, Tønsberg, Norway.
Introduction: Hearing impairment is associated with dementia. We aimed to clarify the association between hearing impairment and future cognitive test performance measured by the Montreal Cognitive Assessment Scale (MoCA), adjusted for confounders, avoiding reverse causation through long follow-up.
Methods: We used the Norwegian population-based longitudinal cohort study, The Trøndelag Health Study (HUNT).
Network Analyses to Explore Comorbidities Among Older Adults Living With Dementia.
J Am Geriatr Soc
January 2025
Department of Community Health Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
Background: Older persons living with dementia (PLWD) often have multiple other chronic health conditions (i.e., comorbidities).
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