Fragile X syndrome and fragile X-associated tremor/ataxia syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Abstract

This chapter discusses the fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X syndrome, the leading heritable form of mental retardation and FXTAS, a newly discovered neurodegenerative disorder are both caused by CGG repeat expansions in the fragile X mental retardation 1 (FMR1) gene; however, the two disorders involve separate groups of individuals, and occur by entirely different molecular mechanisms. Although fragile X syndrome is caused by silencing of the FMRl gene for large (> 200 CGG repeats; full mutation) expansions, FXTAS appears to be caused by increased transcriptional activity of smaller (55 to 200 CGG repeats; premutation) expansion. Furthermore, FXTAS is likely to be one of the few genetic disorders that are caused by a "toxic" gain-of-function of the FMRl mRNA. There is a moderate to severe loss of brain volume with FXTAS, in contrast to the overall increase in brain volume observed in fragile X syndrome. A protocol has recently been developed for the isolation of microgram quantities of purified inclusions from postmortem human brain tissue of FXTAS cases using automated sorting of immunofluorescence-tagged inclusions.

Original languageEnglish (US)
Title of host publicationGenetic Instabilities and Neurological Diseases, Second Edition
PublisherElsevier Inc.
Pages165-174
Number of pages10
ISBN (Print)9780123694621
DOIs
StatePublished - 2006

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Hagerman, R. J., & Hagerman, P. J. (2006). Fragile X syndrome and fragile X-associated tremor/ataxia syndrome. In Genetic Instabilities and Neurological Diseases, Second Edition (pp. 165-174). Elsevier Inc.. https://doi.org/10.1016/B978-012369462-1/50011-9