AI Article Synopsis
- Mutations in the Presenilin-1 (PSEN1) gene are linked to very early onset Alzheimer's disease (VEOAD), affecting individuals in their 30s.
- Two patients reported, one male (33) with a p.F177S mutation and one female (37) with a p.L381V mutation, experienced significant cognitive decline and other neurological symptoms.
- The study enhances understanding of VEOAD genetics and broadens the ethnic diversity associated with PSEN1 mutations.
Article Abstract
Mutations in Presenilin-1 (PSEN1) have been found to be associated with very early onset Alzheimer's disease (VEOAD). Here, we reported two patients with VEOAD caused by de novo PSEN1 mutations. A 33-year-old man with a de novo p.F177S mutation in PSEN1 presented with progressive decline in memory and daily function. A 37-year-old woman with a de novo PSEN1 p.L381V mutation presented with onset memory impairment, developed cerebellar syndrome, rigidity, and spastic paraparesis. The Amyloid/Tau/Neurodegeneration (ATN) biomarker profiles of both patients were A + T + (N)+. Our finding increases the genetic knowledge of VEOAD and extends the ethnic distribution of PSEN1 mutations.
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| http://dx.doi.org/10.3233/JAD-215167 | DOI Listing |
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