JAMA Sub-Journal: The relationship between APOEɛ4 allele and adults with dementia caused by Down syndrome

Down syndrome (DS) patients constitute a very high risk group for Alzheimer's disease (AD) because they have triploids on chromosome 21, which contains the APP (amyloid precursor protein; OMIM 104760) gene

The lifetime risk of dementia in this type of population exceeds 90%, and it is determined that Alzheimer's disease dementia is the main cause of death in this population

The change pattern of DS biomarkers has similar time characteristics to the change pattern of autosomal dominant biomarkers, has a longer preclinical stage, and its pathophysiological process is comparable to sporadic AD

Lipoprotein E (APOE; OMIM 107741) ε4 allele is the most widely known genetic risk factor for sporadic AD, and it has been associated with earlier symptoms and pathology of AD in the general population

Lipoprotein E (APOE; OMIM 107741) ε4 allele is the most widely known genetic risk factor for sporadic AD, and it has been associated with earlier symptoms and pathology of AD in the general population

JAMA

This two-center cohort study recruited adult DS patients in Barcelona, ​​Spain and Cambridge, England between June 1, 2009 and February 28, 2020

Participants underwent neurological and neuropsychological evaluations

The relationship between APOEε4 allele and the clinical diagnosis and cognitive performance of DS

APOEε4 DS allele and clinical diagnostic relations and cognitive performance diagnosis

Among the 464 adult DS patients included in the study, 97 (20.

Compared with non-carriers, APOEɛ4 allele carriers have a younger age of onset of AD symptoms (mean [SD] age, 50.

Compared with non-carriers, APOEɛ4 allele carriers have a younger age of onset of AD symptoms (mean [SD] age, 50.

The relationship between APOEε4 allele and gray matter metabolism and volume

The relationship between APOEε4 allele and gray matter metabolism and volume

The locally estimated scattered smooth curve further shows that APOEɛ4 carriers exhibit lower CSF before age 40.

Carriers exhibit low CSF Aβ1-42 compared to [beta] 1-40, and plasma amyloid PET pTau181 earlier increase before the age of 40, the loss of hippocampal volume and white matter metabolic earlier carriers exhibited before the age of 40 Lower CSF Aβ1-42 Compared with Aβ1-40, amyloid PET and plasma pTau181 increased earlier, and white matter metabolism and hippocampal volume loss were earlier

In this study, the APOEɛ4 allele was associated with early clinical and biomarker changes in DS

In this study, the APOEɛ4 allele was associated with early clinical and biomarker changes in DS

references:

Association of Apolipoprotein E ɛ4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome.

Association of Apolipoprotein E ɛ4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome.


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