Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats

D. Z. Loesch, L. Litewka, A. Churchyard, E. Gould, Flora Tassone, M. Cook

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


The fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly discovered late-onset neurodegenerative disorder caused by a premutation in the FMR1 X-linked gene. We present examples of a discrepancy between obvious brain changes observed on MRI, and minimal clinical neurological manifestations in three older carriers of this premutation. This discrepancy occurred in three of nine carriers ascertained in an unbiased manner. If the systematic follow-up studies of adult carriers confirm this trend, this will have an impact on early diagnosis of neurological involvement and possible prevention. If MRI changes precede clinical manifestation of FXTAS this may explain the low detection rate of fragile X carriers among patients with neurological syndromes associated with tremor/ataxia.

Original languageEnglish (US)
Pages (from-to)245-248
Number of pages4
JournalJournal of Clinical Neuroscience
Issue number3
StatePublished - Mar 2007


  • FMR1 premutation carriers
  • Fragile X
  • Magnetic resonance imaging
  • Neurodegeneration
  • Tremor/ataxia

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Neurology


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