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Clinical Manifestations.

Angélica Zuno-Reyes1, Karina Pérez-Rubio1, Ricardo Jáuregui Torres1

  • 1Instituto de Neurociencias, CUCBA, Universidad de Guadalajara, Guadalajara, JA, Mexico.

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Preclinical carriers of APPV717I autosomal dominant Alzheimer's disease showed intact memory but deficits in cognitive flexibility. Years of schooling positively influenced cognitive flexibility performance in these individuals.

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychology

Background:

  • Autosomal dominant Alzheimer's disease (ADAD) is linked to mutations in the amyloid precursor protein (APP) gene.
  • APPV717I is a common mutation associated with ADAD, with carriers potentially experiencing cognitive changes before clinical symptoms manifest.
  • Early detection of cognitive changes in preclinical carriers is crucial for understanding disease progression and developing interventions.

Purpose of the Study:

  • To evaluate memory and executive functions (EF) in preclinical carriers (PC) of the APPV717I mutation.
  • To determine the influence of age and years of schooling (YoS) on cognitive performance in PC.
  • To establish a precedent for studying EF in the APPV717I mutation at the preclinical stage.

Main Methods:

  • Fifteen PC and twenty-four non-carrier (NC) family members of APPV717I mutation carriers were assessed.
  • Cognitive flexibility and memory were evaluated using the Mexican standardization of the CERAD neuropsychological protocol (CERAD-MX).
  • Statistical analyses included t-tests for group comparisons and correlation/regression analyses for age and YoS effects.

Main Results:

  • PC demonstrated significantly lower performance on the MWCST (assessing cognitive flexibility) compared to NC.
  • No significant differences in memory task performance were observed between PC and NC groups.
  • Years of schooling (YoS) showed a strong positive correlation with cognitive flexibility and predicted performance, while age did not.

Conclusions:

  • Individuals with the APPV717I mutation exhibit preclinical deficits in cognitive flexibility, not memory, distinguishing them from carriers of other ADAD mutations.
  • Years of schooling significantly impacts cognitive flexibility, suggesting a potential compensatory role.
  • This study pioneers the investigation of executive functions in the preclinical stage of APPV717I mutations, offering valuable insights into early ADAD progression.