Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopathologically confirmed EOAD pedigrees, AD/A and AD/B, with highly informative short tandem repeat (STR) polymorphisms and found complete linkage of the disease to a (CA)n dinucleotide repeat polymorphism at locus D14S43 in 14q24.3 (Zmax = 13.25 at theta = 0.0). Using additional chromosome 14 STR polymorphisms we were able to delineate the region containing the EOAD gene to an area of, at most, 8.9 centiMorgans between D14S42 and D14S53, flanking D14S43 on both sides.
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http://dx.doi.org/10.1038/ng1292-335 | DOI Listing |
J Alzheimers Dis
January 2025
Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Background: Sodium-glucose cotransporter 2 (SGLT2) inhibitors is a novel category of medications for diabetes, exhibiting neuroprotective potential. However, evidence regarding whether the use of SGLT2 inhibitors effectively reduces the risk of Alzheimer's disease (AD) remains unclear.
Objective: Our study employed Mendelian randomization (MR) analysis to investigate potential causal relationships between SGLT2 inhibition, metabolites, and AD.
Acta Neuropathol
January 2025
Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.
Down syndrome (DS) is strongly associated with Alzheimer's disease (AD) due to APP overexpression, exhibiting Amyloid-β (Aβ) and Tau pathology similar to early-onset (EOAD) and late-onset AD (LOAD). We evaluated the Aβ plaque proteome of DS, EOAD, and LOAD using unbiased localized proteomics on post-mortem paraffin-embedded tissues from four cohorts (n = 20/group): DS (59.8 ± 4.
View Article and Find Full Text PDFAust N Z J Psychiatry
January 2025
Neuropsychiatry Centre, The Royal Melbourne Hospital, Parkville, VIC, Australia.
Introduction: Young-onset neurocognitive symptoms result from a heterogeneous group of neurological and psychiatric disorders which present a diagnostic challenge. To identify such factors, we analysed the Biomarkers in Younger-Onset Neurocognitive Disorders cohort, a study of individuals <65 years old presenting with neurocognitive symptoms for a diagnosis and who have undergone cognitive and biomarker analyses.
Methods: Sixty-five participants (median age at assessment of 56 years, 45% female) were recruited during their index presentation to the Royal Melbourne Hospital Neuropsychiatry Centre, a tertiary specialist service in Melbourne, Australia, and categorized as either early-onset Alzheimer's disease ( = 18), non-Alzheimer's disease neurodegeneration ( = 23) or primary psychiatric disorders ( = 24).
Gesundheitswesen
January 2025
Lehrstuhl für Medizinmanagement, Universität Duisburg-Essen, Essen, Germany.
Compared to the general population, individuals with Down syndrome carry a much higher genetic risk of developing early onset Alzheimer's dementia. This leads to unique challenges and the need for a targeted patient journey.In a qualitative interview study with medical professionals, patient organisations and formal and informal care persons, we assessed barriers within the medical care process of this patient group as well as current approaches to overcome these problems.
View Article and Find Full Text PDFJ Prev Alzheimers Dis
January 2025
Department of Neurology, National Health Insurance Service Ilsan Hospital, Goyang, South Korea. Electronic address:
Background: Early-onset dementia (EOD) and late-onset dementia (LOD) may have distinct modifiable risk-factor profiles.
Objective: To identify and compare factors associated with EOD and LOD using a nationwide cohort database.
Design: Nationwide two nested case-control studies.
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