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A low-symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes
  1. Danuta Z Loesch (d.loesch{at}latrobe.edu.au)
  1. School of Psychological Science, La Trobe University, Victoria 3086, Australia, Australia
    1. Mark Cook (mark{at}neurology.net.au)
    1. Department of Clinical Neuroscience and Neurological Research, St Vincent’s Hospital, Australia
      1. Lucas Litewka (lucas.litewka{at}svhm.org.au)
      1. Department of Clinical Neuroscience and Neurological Research, St Vincent’s Hospital, Australia
        1. Emma Gould (e.gould{at}latrobe.edu.au)
        1. School of Psychological Science, La Trobe University, Victoria 3086, Australia, Australia
          1. Andrew Churchyard (andrewchurchyard{at}bigpond.com)
          1. Southern Health Network, Victoria, Australia, Australia
            1. Flora Tassone (ftassone{at}ucdavis.edu)
            1. University of Colorado School of Medicine, United States
              1. Howard Robert Slater (howard.slater{at}ghsv.org.au)
              1. Murdoch Childrens Research Institute, Australia
                1. Elsdon Storey (elsdon.storey{at}med.monash.edu.au)
                1. Van Cleef Roet Centre for Nervous Diseases, Monash University (Alfred Hospital Campus), Victoria,, Australia

                  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 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.

                  • FMR1 premutation
                  • Fragile X
                  • MRI
                  • middle cerebellar peduncles MCP
                  • tremor/ataxia

                  https://doi.org/10.1136/jmg.2007.054171

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