Fragile X tremor/ataxia syndrome: blame the messenger!

Maurice S Swanson; Harry T Orr

doi:10.1016/j.neuron.2007.07.032

Fragile X tremor/ataxia syndrome: blame the messenger!

Neuron. 2007 Aug 16;55(4):535-7. doi: 10.1016/j.neuron.2007.07.032.

Authors

Maurice S Swanson¹, Harry T Orr

Affiliation

¹ Department of Molecular Genetics and Microbiology, University of Florida, College of Medicine, Cancer Genetics Research Complex, 1376 Mowry Road, Gainesville, FL 32610-3610, USA. orrxx002@umn.edu

PMID: 17698005
DOI: 10.1016/j.neuron.2007.07.032

Abstract

rCGG repeats in premutant alleles of the fragile X gene (FMR1) cause neurodegeneration in Drosophila and are thought to cause fragile X-associated tremor/ataxia syndrome in humans. Two reports in this issue of Neuron (Jin et al. and Sofola et al.) present data indicating a disease mechanism involving disruption of RNA-binding protein function.

Publication types

Comment

MeSH terms

Animals
Drosophila Proteins / genetics
Fragile X Mental Retardation Protein / genetics
Fragile X Syndrome / complications
Fragile X Syndrome / genetics
Fragile X Syndrome / metabolism*
Humans
Models, Biological
Neurodegenerative Diseases / etiology
Neurodegenerative Diseases / genetics
Neurodegenerative Diseases / metabolism
RNA-Binding Proteins / genetics
RNA-Binding Proteins / metabolism*

Substances

Drosophila Proteins
FMR1 protein, Drosophila
RNA-Binding Proteins
Fragile X Mental Retardation Protein