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Clinical Manifestations.

Paula Ospina1, Daniel Vasquez1, Ana Y Baena2

  • 1Grupo de Neurociencias de Antioquia, Facultad de Medicina, Universidad de Antioquia, Medellín, Antioquia, Colombia.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
PubMed
Summary
This summary is machine-generated.

Individuals with autosomal dominant Alzheimer's disease (ADAD) mutations showed lower perceived social support compared to non-carriers. This finding highlights social support as a potential modifiable factor for dementia risk in high-risk populations.

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychology

Background:

  • Perceived social support is crucial for cognitive health, particularly in neurodegenerative diseases.
  • Autosomal dominant Alzheimer's disease (ADAD) presents an early-onset dementia risk, making identification of modifiable factors critical.
  • This study focuses on the Colombian PSEN1 E280A mutation kindred, a high-risk population for ADAD.

Purpose of the Study:

  • To investigate the impact of perceived social support on cognitive performance in cognitively unimpaired individuals at risk for ADAD.
  • To compare social support levels between PSEN1 E280A mutation carriers and non-carriers.
  • To explore the relationship between social support, cognitive function, and depressive symptoms in this cohort.

Main Methods:

  • 144 cognitively unimpaired individuals from the PSEN1 E280A cohort (carriers and non-carriers) were assessed.
  • Cognitive function was evaluated using the Mini-Mental State Examination (MMSE) and CERAD Word List Delayed Recall.
  • Perceived social support was measured using the Multidimensional Scale of Perceived Social Support (MSPSS), assessing support from family, friends, and significant others.

Main Results:

  • PSEN1 E280A carriers exhibited lower MMSE scores and higher depressive symptoms than non-carriers.
  • Carriers reported significantly lower overall perceived social support, particularly from family and significant others.
  • Perceived social support levels were not correlated with cognitive performance, age, or education in this cohort.

Conclusions:

  • Significant differences in perceived social support exist between ADAD mutation carriers and non-carriers.
  • Further longitudinal research is needed to understand the relationship between social support and cognitive functions like executive function.
  • Assessing perceived social support may aid in identifying modifiable risk factors and developing interventions for dementia prevention.