Article

A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes.

Journal of Medical Genetics (impact factor: 6.36). 04/2008; 45(3):179-81. DOI:10.1136/jmg.2007.054171 pp.179-81
Source: PubMed

ABSTRACT Fragile X-associated tremor/ataxia (FXTAS) is a late onset disorder caused by a premutation in the FMR1 gene, in which neurological symptoms are associated with white matter (wm) changes, especially within the middle cerebellar peduncles (MCP sign), seen on magnetic resonance images (MRIs). We report a discrepancy between obvious radiological presentations and minimal clinical involvement in two younger male premutation carriers. These carriers, aged 52 and 39 years, showed distinct MCP sign, but reported no neurological symptoms. If this discrepancy represents the initial stage of FXTAS, our findings suggest the possibility of early diagnosis from MRI scans.

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Keywords

distinct MCP sign
 
Fragile X-associated tremor/ataxia
 
magnetic resonance images
 
MCP sign
 
middle cerebellar peduncles
 
minimal clinical involvement
 
MRI scans
 
obvious radiological presentations
 
white matter
 
younger male premutation carriers