January 9, 2023
Read in 2 minutes
Boerwinkle does not report related financial disclosures. See research for relevant financial disclosures of all other authors.
Changes in amyloid positron emission tomography scans were similar between patients with autosomal dominant Alzheimer’s disease and Down’s syndrome, researchers reported lancet neurology.
Down syndrome, caused by complete or partial triplication of chromosome 21, is one of the most common genetic disorders. Because it is triplicate, people with Down syndrome have an extra copy. app genes that overproduce amyloid beta, Anna H. Bowinkle, BSc, Written by researchers at the Anthes Bioimaging Institute at Washington University School of Medicine in St. Louis.
Boerwinkle and colleagues sought to assess whether the timing and spatial distribution of amyloid accumulation differed between patients with autosomal dominant AD and Down syndrome.
Investigators conducted a cross-sectional study of Down syndrome participants and sibling controls aged 25 years and older who underwent MRI and amyloid PET scans in the Alzheimer’s Disease Biomarker Consortium Down Syndrome Study. In addition, carriers of gene mutations for autosomal dominant AD disease and familial controls were included.
Both groups of controls have been combined into a single control group.Alzheimer’s disease mutation carriers and their non-carrier familial controls underwent genetic testing to determine PSEN1, PSEN2 Also app Mutation state. appointment Genotypes were determined from blood samples. Cerebrospinal fluid samples were obtained from individuals who consented to lumbar puncture.
A total of 192 Down syndrome patients and 33 sib controls, 265 carriers of autosomal dominant AD mutations, and 169 non-carrier familial controls were enrolled.
PET amyloid centroid and CSF alpha beta 42/40 were negatively correlated in carriers of autosomal dominant AD mutations (n = 216; –0.565) and Down syndrome carriers (n = 32; –0.801). was.
between asymptomatic Down syndrome patients (mean 18.8 centroids) and asymptomatic mutation carriers (mean 24.61 centroids) and between symptomatic Down syndrome patients (mean 77.25 centroids) and symptomatic mutations Carriers did not differ in overall PET amyloid load (mean, 69.15 centroids).
Amyloid deposition rose significantly earlier in mutation carriers than in Down syndrome patients (years to onset, –23 vs –17.5). PSEN1 mutation.
Early amyloid accumulation occurred in striatal and cortical regions of both mutation carriers (n = 265) and patients with Down’s syndrome (n = 128).
“Despite minor differences, amyloid PET alterations were similar between patients with autosomal dominant Alzheimer’s disease and those with Down’s syndrome, strongly supporting early amyloid dysregulation in patients with Down’s syndrome,” said Boerwinkle. wrote. “People with Down syndrome who are at least 35 years of age may benefit from early intervention and may warrant participation in future clinical trials, especially given the relatively high incidence of Down syndrome. I have.”