Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases

  • Muzar Zukhrofi
    Medical Investigation of Neurodevelopmental Disorders MIND Institute
  • Adams Patrick E.
    Medical Investigation of Neurodevelopmental Disorders MIND Institute Department of Pediatrics, UC Davis Medical Center
  • Schneider Andrea
    Medical Investigation of Neurodevelopmental Disorders MIND Institute Department of Pediatrics, UC Davis Medical Center
  • Hagerman Randi J.
    Medical Investigation of Neurodevelopmental Disorders MIND Institute Department of Pediatrics, UC Davis Medical Center
  • Lozano Reymundo
    Medical Investigation of Neurodevelopmental Disorders MIND Institute Department of Pediatrics, UC Davis Medical Center

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抄録

A debilitating late-onset disorder of the premutation in the FMR1 gene is the neurodegenerative disorder fragile X-associated tremor ataxia syndrome (FXTAS). We report two patients with FXTAS who have a history of substance abuse (opiates, alcohol, and cocaine) which may have exacerbated their rapid neurological deterioration with FXTAS. There has been no case report regarding the role of substance abuse in onset, progression, and severity of FXTAS symptoms. However, research has shown that substance abuse can have a negative impact on several neurodegenerative diseases, and we propose that in these cases, substance abuse contributed to a faster progression of FXTAS as well as exacerbated white matter disease.

収録刊行物

  • Intractable & Rare Diseases Research

    Intractable & Rare Diseases Research 3 (4), 162-165, 2014

    特定非営利活動法人 バイオ&ソーシャル・サイエンス推進国際研究交流会

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