FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

Flora Tassone, Christine Iwahashi, Paul J Hagerman

Research output: Contribution to journalArticle

174 Citations (Scopus)

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting older adult males with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. The principal clinical features of FXTAS include progressive intention tremor, gait ataxia, parkinsonism, and autonomic dysfunction. The disorder affects at least one-third of carrier males over 50 years of age and, with an estimated carrier frequency of approximately 1/800 males, is likely to be one of the most common heritable forms of tremor and ataxia among older adult males in the general population. Brains from all FXTAS cases examined to date (10/10) possess numerous ubiquitin-positive intranuclear inclusions in broad distribution throughout the cerebrum and brainstem. The absence of either the neurodegenerative disorder or inclusions among adults with fragile X syndrome (who lack the FMR1 protein), coupled with elevated FMR1 mRNA with expanded CGG repeats in premutation carriers, has led us to propose an RNA toxic gain-of-function model for FXTAS. Consistent with this model, we have now identified FMR1 mRNA within the intranuclear inclusions isolated from post-mortem (FXTAS) brain tissue.

Original languageEnglish (US)
Pages (from-to)103-105
Number of pages3
JournalRNA Biology
Volume1
Issue number2
StatePublished - Jul 2004

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Intranuclear Inclusion Bodies
Intellectual Disability
RNA
Tremor
Neurodegenerative Diseases
Fragile X Mental Retardation Protein
Gait Ataxia
Fragile X Syndrome
Messenger RNA
Poisons
Brain
Cerebrum
Parkinsonian Disorders
Ataxia
Ubiquitin
Brain Stem
Alleles
Fragile X Tremor Ataxia Syndrome
Population
Genes

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

Cite this

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). / Tassone, Flora; Iwahashi, Christine; Hagerman, Paul J.

In: RNA Biology, Vol. 1, No. 2, 07.2004, p. 103-105.

Research output: Contribution to journalArticle

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