A Rare PSEN1 (Leu85Pro) Mutation Causing Alzheimer's Disease in a 29-Year-Old Woman Presenting as Corticobasal Syndrome

J Alzheimers Dis. 2019;70(3):655-658. doi: 10.3233/JAD-190107.

Abstract

Dementia is not just a disease of old age. Early-onset dementia affects people younger than 65 and its differential diagnosis is broader than in older people. Nevertheless, although young people are considerably more liable to develop a rare form of dementia, Alzheimer's disease (AD) remains the most common diagnosis. The aim of this article is to report on an early-onset AD patient associated with the rare pathogenic variant PSEN1 (Leu85Pro) presenting as a possible corticobasal syndrome with asymmetric limb apraxia, parkinsonian signs, and myoclonus.

Keywords: Alzheimer’s disease; amyloid PET; corticobasal syndrome; presenilin-1.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alzheimer Disease* / diagnosis
  • Alzheimer Disease* / genetics
  • Alzheimer Disease* / psychology
  • Amyloid beta-Peptides / metabolism
  • Brain* / diagnostic imaging
  • Brain* / metabolism
  • Brain* / pathology
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods
  • Mental Competency*
  • Mental Status and Dementia Tests
  • Mutation
  • Myoclonus* / diagnosis
  • Myoclonus* / etiology
  • Neurologic Examination / methods
  • Neuropsychological Tests
  • Positron Emission Tomography Computed Tomography / methods
  • Presenilin-1* / genetics

Substances

  • Amyloid beta-Peptides
  • PSEN1 protein, human
  • Presenilin-1