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Fragile X–Associated Tremor/Ataxia SyndromeAn Aging Face of the Fragile X Gene
Khaled Amiri, PhD;
Randi J. Hagerman, MD;
Paul J. Hagerman, MD, PhD
Arch Neurol. 2008;65(1):19-25.
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INTRODUCTION
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late-adult–onset neurodegenerative disorder affecting primarily male (and occasionally female) carriers of a premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1). FXTAS is principally characterized as a movement disorder with progressive intention tremor and gait ataxia, with more variable associated features of parkinsonism, dysautonomia, peripheral neuropathy, and dementia. The pathogenic basis of FXTAS is overexpression of the "toxic" expanded CGG repeat FMR1 RNA, which leads to neural cell dysregulation, formation of intranuclear inclusions in neurons and astrocytes, and disruption of the nuclear lamin architecture. By contrast, larger CGG repeat expansions (> 200 CGG repeats, full mutation) generally result in FMR1 silencing and absence of FMR1 RNA and protein (FMRP). The lack of FMRP is the pathogenic basis of the developmental disorder fragile X syndrome, the . . . [Full Text of this Article]
CLINICAL PHENOTYPE AND SPECTRUM OF INVOLVEMENT IN FXTAS
EPIDEMIOLOGY
NEUROPATHOLOGY
MOLECULAR PATHOGENESIS
TREATMENT OPTIONS
AUTHOR INFORMATION
Author Affiliations: Department of Biology, College of Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates (Dr Amiri); Departments of Pediatrics (Dr R. J. Hagerman) and Biochemistry and Molecular Medicine (Dr P. J. Hagerman) and the M.I.N.D. Institute (Drs R. J. Hagerman and P. J. Hagerman), School of Medicine, University of California, Davis.
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