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FMR1 premutation in females diagnosed with multiple sclerosis
  1. L Zhang1,
  2. S Coffey2,
  3. L L Lua1,
  4. C M Greco3,
  5. J A Schafer4,
  6. J Brunberg5,
  7. M Borodyanskaya2,
  8. M A Agius1,
  9. M Apperson1,
  10. M Leehey6,
  11. N Tartaglia2,
  12. F Tassone2,
  13. P J Hagerman7,
  14. R J Hagerman2
  1. 1
    Department of Neurology, University of California-Davis School of Medicine, Sacramento, California, USA
  2. 2
    Department of Pediatrics and MIND Institute, University of California-Davis School of Medicine, Sacramento, California, USA
  3. 3
    Department of Pathology, University of California-Davis School of Medicine, Sacramento, California, USA
  4. 4
    Neurology Services, Mercy Medical Group, Sacramento, California, USA
  5. 5
    Department of Radiology, University of California-Davis School of Medicine, Sacramento, California, USA
  6. 6
    Department of Neurology, University of Colorado Health Sciences Center, Denver, Colorado, USA
  7. 7
    Department of Biochemistry and Molecular Medicine, University of California-Davis School of Medicine, Davis, California, USA
  1. Dr L Zhang, Department of Neurology, University of California-Davis School of Medicine, 4860 Y Street, Suite 3700, Sacramento, CA 95817, USA; lin.zhang{at}ucdmc.ucdavis.edu

https://doi.org/10.1136/jnnp.2008.160960

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    Fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects individuals with premutation alleles of the fragile X mental retardation (FMR1) gene. The clinical features of FXTAS include intention tremor, ataxia, parkinsonism, peripheral neuropathy, autonomic dysfunction and cognitive impairment.1 Such symptoms are accompanied by characteristic MRI focal areas of increased T2 signal in the middle cerebellar peduncles (MCP).1

    In this report, we describe two female patients with FXTAS who were initially diagnosed with multiple sclerosis (MS) and treated accordingly but who also met diagnostic criteria for FXTAS. Their clinical features and MRI appearance are compared with other female FXTAS cases previously reported without a diagnosis of MS. A recent report of a female who died of MS and who also had FXTAS inclusions suggests that these two disorders can occur together.2

    Case reports

    Patient No 1

    Case 1 is a 48-year-old female premutation carrier with a history of MS which began at the age of 33 years. Initially, her handwriting quality declined, and she subsequently became ataxic. A combination of weakness, clumsiness and ataxia forced her to use a wheelchair beginning in her late thirties. During that same period, she was diagnosed with MS following a CSF study which showed elevated IgG (9.8 mg/dl; reference range 0.5–6.1 mg/dl) without oligoclonal bands or myelin basic protein. Her course was consistent with relapsing–remitting MS with early secondary progression, and she was treated …

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    Footnotes

    • Competing interests: None.

    • Funding: This research was supported by NICHD (HD36071 and HD02274), NINDS (NS43532 and NS044299), NIA (AG032119 and AG032115) and NIDCR (DE19583).

    • Ethics approval: The study was approved by the UC Davis Health System Institutional Review Board in Sacramento, California, USA.

    • Patient consent: Obtained.