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A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes
  1. D Z Loesch1,
  2. M Cook2,
  3. L Litewka2,
  4. E Gould1,
  5. A Churchyard3,
  6. F Tassone4,
  7. H R Slater5,
  8. E Storey6
  1. 1
    School of Psychological Science, La Trobe University, Victoria, Australia
  2. 2
    Department of Clinical Neuroscience and Neurological Research, St Vincent’s Hospital & University of Melbourne, Victoria, Australia
  3. 3
    Southern Health Network, Victoria, Australia
  4. 4
    Department of Biochemistry and Molecular Medicine, University of California at Davis, Davis, California, USA
  5. 5
    VCGS Cytogenetics Laboratory, Murdoch Children’s Research Institute, Royal Children’s Hospital, Victoria, Australia
  6. 6
    Van Cleef Roet Centre for Nervous Diseases, Monash University (Alfred Hospital Campus), Victoria, Australia
  1. Dr D Z Loesch, School of Psychological Science, La Trobe University, VIC 3086, Australia; d.loesch{at}


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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  • Competing interests: None declared.