Article
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes.
Journal of medical genetics - 1 Mar 2008
Loesch D Z, Cook M, Litewka L, Gould E, Churchyard A, Tassone F, Slater H R, Storey E
Abstract excerpt
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...
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