Before this diagnosis in China, the youngest patient with Alzheimer's was 21 years old. They carried the PSEN1 gene mutation, which causes abnormal proteins to build up in the brain, forming clumps of ...
The teenager, diagnosed with Alzheimer's disease, was having trouble focusing in class. While reading became difficult, his short-term memory declined over the years.
PSEN1 encodes presenilin-1, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. More than 300 mutations in PSEN1 have been reported and mutations in PSEN1 are the most ...