Ubiquitous neurocognitive dysfunction in familial adenomatous polyposis: Proof-of-concept of the role of APC protein in neurocognitive function

Marcia Roxana Cruz-Correa, Ana Cecilia Sala, Beatriz Cintrón, Jessica Hernández, Myrta Olivera, Adrian Cora, Constance M. Moore, Carlos A. Luciano, Marievelisse Soto-Salgado, Francis M. Giardiello, Stephen R. Hooper

Research output: Contribution to journalArticle

Abstract

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by germline mutations in the APC gene. Patients with FAP have multiple extraintestinal manifestations that follow a genotype-phenotype pattern; however, few data exist characterizing their cognitive abilities. Given the role of the APC protein in development of the central nervous system, we hypothesized that patients with FAP would show differences in cognitive functioning compared to controls. Methods: Matched case-control study designed to evaluate cognitive function using the Test of Nonverbal Intelligence-4, the Bateria III Woodcock-Munoz, and the Behavior Rating Inventory of Executive Functions-Adult. Twenty-six individuals with FAP (mean age = 34.2 ± 15.0 years) and 25 age-gender and educational level matched controls (mean age = 32.7 ± 13.8 years) were evaluated. Results: FAP-cases had significantly lower IQ (p = 0.005). Across all tasks of the Bateriá III Woodcock-Munõz, FAP-cases performed significantly lower than controls, with all of the summary scores falling in the bottom quartile compared to controls (p < 0.0001). Patients with FAP scored within the deficient range for Long-Term Retrieval and Cognitive Fluency. Conclusion: APC protein has an important role in neurocognitive function. The pervasive nature of the observed cognitive dysfunction suggests that loss or dysfunction of the APC protein impacts processes in cortical and subcortical brain regions. Additional studies examining larger ethnically diverse cohorts with FAP are warranted.

Original languageEnglish (US)
Article number4
JournalHereditary Cancer in Clinical Practice
Volume18
Issue number1
DOIs
StatePublished - Feb 24 2020

Keywords

  • FAP
  • Familial adenomatous polyposis
  • Hispanics
  • Neurocognition

ASJC Scopus subject areas

  • Oncology
  • Genetics(clinical)

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    Cruz-Correa, M. R., Sala, A. C., Cintrón, B., Hernández, J., Olivera, M., Cora, A., Moore, C. M., Luciano, C. A., Soto-Salgado, M., Giardiello, F. M., & Hooper, S. R. (2020). Ubiquitous neurocognitive dysfunction in familial adenomatous polyposis: Proof-of-concept of the role of APC protein in neurocognitive function. Hereditary Cancer in Clinical Practice, 18(1), [4]. https://doi.org/10.1186/s13053-020-0135-3