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An 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.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.