美沙酮在一名具有脆性X智力低下基因前突变和脆性X震颤共济失调综合征男性患者中的应用。
Methadone use in a male with the FMRI premutation and FXTAS.
作者信息
Muzar Zukhrofi, Lozano Reymundo, Schneider Andrea, Adams Patrick E, Faradz Sultana M H, Tassone Flora, Hagerman Randi J
机构信息
Center for Biomedical Research, Faculty of Medicine Diponegoro University Semarang, Central Java, Indonesia.
Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.
出版信息
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.
摘要
脆性X相关震颤共济失调综合征（FXTAS）由FMR1基因的前突变引起。最近有关环境毒素的报告显示其似乎会使FXTAS的病情进展恶化。在此，我们报告一例患有FXTAS且有长期美沙酮使用史的成年男性病例。与FXTAS的典型表现相比，该患者在疾病症状和MRI改变方面均呈现出更快的进展。目前尚无关于麻醉药品在FXTAS症状的发作、进展和严重程度中所起作用的研究。然而，研究表明麻醉药品可能会对几种神经退行性疾病产生负面影响，我们推测在这个特殊病例中，美沙酮可能导致了FXTAS更快的进展，并通过前突变携带者中所见的RNA毒性加剧了白质疾病。
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