Methadone use in a male with the FMRI premutation and FXTAS

Am J Med Genet A. 2015 Jun;167(6):1354-9. doi: 10.1002/ajmg.a.37030. Epub 2015 Apr 21.

Abstract

The fragile X-associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the progression of FXTAS. Here we present a case of male adult with FXTAS and a long history of methadone use. The patient shows a faster progression in both symptoms of disease and MRI changes compared to what is typically seen in FXTAS. There has been no research regarding the role of narcotics in onset, progression, and severity of FXTAS symptoms. However, research has shown that narcotics can have a negative impact on several neurodegenerative diseases, and we hypothesize that in this particular case, methadone may have contributed to a faster progression of FXTAS as well as exacerbating white matter disease through RNA toxicity seen in premutation carriers.

Keywords: FMR1 gene; FXTAS; methadone; narcotics; premutation; white matter.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia / complications
  • Ataxia / genetics*
  • Ataxia / pathology
  • Disease Progression
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology
  • Gene Expression
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Methadone / administration & dosage*
  • Middle Aged
  • Mutation
  • Narcotics / administration & dosage*
  • Substance-Related Disorders / complications
  • Substance-Related Disorders / genetics*
  • Substance-Related Disorders / pathology
  • Tremor / complications
  • Tremor / genetics*
  • Tremor / pathology
  • White Matter / drug effects*
  • White Matter / metabolism
  • White Matter / pathology

Substances

  • FMR1 protein, human
  • Narcotics
  • Fragile X Mental Retardation Protein
  • Methadone

Supplementary concepts

  • Fragile X Tremor Ataxia Syndrome