APP Upp: Mutation Nixes Six Amino Acids from Aβ, Spurs Aggregation
Presented at AD/PD, the discovery by scientists in Uppsala is the first APP deletion found to cause Alzheimer’s disease. The same group found the Swedish and Arctic APP mutations.
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Presented at AD/PD, the discovery by scientists in Uppsala is the first APP deletion found to cause Alzheimer’s disease. The same group found the Swedish and Arctic APP mutations.
In familial Alzheimer’s disease, rise in NfL in the blood precedes disease onset by 16 years.
In DIAN, participants who are more physically active may also have slower disease progression.
Recent studies have identified rare loss-of-function variants that cause Alzheimer’s with nearly 100 percent penetrance. Now there are 17 more.
Researchers take first steps on road to targeting disease-causing APP mutations and amyloid processing.
A comparison of these large data sets shows that while the two forms of Alzheimer’s disease have separate triggers, they follow the same course and are much more similar than different.
Health records from 31 million French people suggest that drinking to excess is a major risk factor for early onset dementia.
In people with an autosomal-dominant AD mutation, Aβ and tau start accumulating long before the estimated onset of symptoms.
The neurodegeneration marker appears to track disease severity in AD and MS patients with great sensitivity.
Rather than changing one by one, many biomarkers—including cognition, tau PET, hippocampal atrophy, and CSF p-tau—shift together, around the time of symptom onset in young adults with familial AD.
CRISPR-Cas9 gene editing rids embryos of a mutation causing heart disease, evoking a future where autosomal-dominant disease is prevented at the DNA level. What about AD, FTD, and ALS?
As data pours in, DIAN leaders strive to share and publish it without accidentally disclosing mutation status. The more is learned about preclinical AD, the harder this may get.
Armed with what they consider comprehensive data sets from the DIAN initiative, researchers are beginning a quest to settle an old question that may become key to drug approvals for late-onset AD.
At AAIC, updated imaging data in autosomal-dominant AD shows that longitudinal MRI in large numbers of people confirms atrophy patterns. Tau PET is more variable in DIAN participants than in the Colombian families.
Serial measurements on hundreds of people in the Dominantly Inherited Alzheimer’s Network put proposed staging diagrams on an empirical footing. CSF markers sTREM2 and VILIP-1 track tau.