Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

ABSTRACT:

Importance

Individuals with the fragile X premutation express expanded CGG repeats (repeats 55-200) in the FMR1 gene and elevated FMR1 messenger RNA (mRNA) levels, both of which may underlie the occurrence of the late-onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Because the core feature of FXTAS is motor impairment, determining the influence of FMR1 mRNA levels on structural connectivity of motor fiber tracts is critical for a better understanding of the pathologic features of FXTAS.

Objective

To examine the associations of CGG repeat and FMR1 mRNA with motor-related fiber tracts in males with premutation alleles.

Design and setting

A case-control study conducted at the University of California, Davis, from April 1, 2008, throu

SUBMITTER: Wang JY 

PROVIDER: S-EPMC4028037 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature