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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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COGNITIVE DYSFUNCTION IN FMR1 PREMUTATION CARRIERS.

Andreea Seritan1, Jennifer Cogswell2, Jim Grigsby3

  • 1Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, California.

Current Psychiatry Reviews
|January 27, 2015
PubMed
Summary
This summary is machine-generated.

Older fragile X premutation carriers may develop fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease. This condition can cause significant cognitive impairments, including executive dysfunction and dementia, particularly in men.

Keywords:
FMR1 premutationFXTAScognitiondementiaexecutive functionmemory

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Area of Science:

  • Neurogenetics
  • Neurology
  • Gerontology

Background:

  • Premutation carriers of the fragile X mental retardation gene are at risk for developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder.
  • FXTAS primarily affects men over 50, presenting with a range of cognitive and motor deficits.
  • Cognitive impairments in FXTAS include deficits in attention, memory, processing speed, and executive functions.

Purpose of the Study:

  • To review the prevalence and clinical presentation of dementia in fragile X-associated tremor/ataxia syndrome (FXTAS).
  • To explore the cognitive and neuropsychiatric manifestations associated with FXTAS.
  • To discuss the differential diagnosis and potential treatments for FXTAS dementia.

Main Methods:

  • Literature review of existing studies on FXTAS and its associated dementia.
  • Analysis of cognitive and neuropsychiatric symptoms reported in FXTAS patients.
  • Comparison of FXTAS symptoms with other neurodegenerative diseases for differential diagnosis.

Main Results:

  • FXTAS can lead to significant cognitive decline, including dementia, with reported rates as high as 37-42% in older men.
  • Executive dysfunction is a prominent feature, alongside deficits in attention, memory, visuospatial skills, and psychomotor slowing.
  • Neuropsychiatric symptoms such as mood lability, anxiety, and disinhibition are common, reflecting frontal-subcortical and cerebellar circuit dysfunction.

Conclusions:

  • Fragile X-associated tremor/ataxia syndrome (FXTAS) is a significant cause of neurodegeneration and dementia in premutation carriers.
  • Understanding the full spectrum of cognitive and neuropsychiatric symptoms is crucial for diagnosis and management.
  • Further research is needed to clarify dementia prevalence in women and identify specific risk factors.