title: Fragile X gene expansions are not associated with dementia.
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.
authors: Department of Neurological Sciences, Rush University, Chicago, IL, USA. Electronic address: Deborah_A_Hall@rush.edu.
authors: Deborah A
authors: DA
authors: Hall
authors: Rush Alzheimer's Disease Center, Rush University, Chicago, IL, USA.
authors: David A
authors: DA
authors: Bennett
authors: 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.
authors: Christopher M
authors: CM
authors: Filley
authors: Rush Alzheimer's Disease Center, Rush University, Chicago, IL, USA.
authors: Raj C
authors: RC
authors: Shah
authors: Department of Neurology, University of Colorado School of Medicine, Aurora, CO, USA; Department of Psychiatry, University of Colorado School of Medicine, Aurora, CO, USA.
authors: Benzi
authors: B
authors: Kluger
authors: Department of Neurological Sciences, Rush University, Chicago, IL, USA.
authors: Bichun
authors: B
authors: Ouyang
authors: 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.
authors: Elizabeth
authors: E
authors: Berry-Kravis
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics*; D060825:Cognitive Dysfunction / Q000235:genetics*; D015331:Cohort Studies; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Alzheimer's disease; FMR1; Fragile X