PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

ABSTRACT: Alzheimer's disease (AD) is the most common cause of dementia, characterized by progressive loss of cognitive function, with β-amyloid plaques and neurofibrillary tangles being its major pathological findings. Although the disease mainly affects the elderly, c. 5-10% of the cases are due to PSEN1, PSEN2, and APP mutations, principally associated with an early onset of the disease. The A413E (rs63750083) PSEN1 variant, identified in 2001, is associated with early-onset Alzheimer's disease (EOAD). Although there is scant knowledge about the disease's clinical manifestations and particular features, significant clinical heterogeneity was reported, with a high incidence of spastic paraparesis (SP), language impairments, and psychiatric and motor manifestations. This

SUBMITTER: Orozco-Barajas M 

PROVIDER: S-EPMC9361039 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature