Fragile X gene expansions are not associated with dementia

Deborah A Hall; David A Bennett; Christopher M Filley; Raj C Shah; Benzi Kluger; Bichun Ouyang; Elizabeth Berry-Kravis

doi:10.1016/j.neurobiolaging.2014.04.027

Fragile X gene expansions are not associated with dementia

Neurobiol Aging. 2014 Nov;35(11):2637-2638. doi: 10.1016/j.neurobiolaging.2014.04.027. Epub 2014 May 2.

Authors

Deborah A Hall¹, David A Bennett², Christopher M Filley³, Raj C Shah², Benzi Kluger⁴, Bichun Ouyang⁵, Elizabeth Berry-Kravis⁶

Affiliations

¹ Department of Neurological Sciences, Rush University, Chicago, IL, USA. Electronic address: Deborah_A_Hall@rush.edu.
² Rush Alzheimer's Disease Center, Rush University, Chicago, IL, USA.
³ Department of Neurology, University of Colorado School of Medicine, Aurora, CO, USA; Department of Psychiatry, University of Colorado School of Medicine, Aurora, CO, USA; Department of Neurology, Denver Veterans Affairs Medical Center, Denver, CO, USA.
⁴ Department of Neurology, University of Colorado School of Medicine, Aurora, CO, USA; Department of Psychiatry, University of Colorado School of Medicine, Aurora, CO, USA.
⁵ Department of Neurological Sciences, Rush University, Chicago, IL, USA.
⁶ Department of Neurological Sciences, Rush University, Chicago, IL, USA; Department of Pediatrics, Rush University, Chicago, IL, USA; Department of Biochemistry, Rush University, Chicago, IL, USA.

PMID: 24958193
PMCID: PMC4273643
DOI: 10.1016/j.neurobiolaging.2014.04.027

Abstract

The purpose of this study was to determine the frequency of fragile X mental retardation 1 (FMR1) premutation size expansions in individuals with Alzheimer's disease (AD) and other cognitive disorders compared with control subjects. FMR1 genetic screening was completed in patients being seen in a neurobehavioral or AD clinics. Appropriate controls were also collected. A second cohort was a community based, autopsy confirmed, sample of individuals with normal cognitive function, mild cognitive impairment, or AD. There was not an increased frequency of FMR1 expansions in individuals with cognitive disorders, including AD, compared with control subjects.

Keywords: Alzheimer's disease; FMR1; Fragile X.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Alzheimer Disease / genetics*
Cognitive Dysfunction / genetics*
Cohort Studies
Fragile X Mental Retardation Protein / genetics*
Genetic Testing
Humans
Trinucleotide Repeat Expansion / genetics*

Substances

FMR1 protein, human
Fragile X Mental Retardation Protein

Abstract

Publication types

MeSH terms

Substances

Grants and funding