Muzar Zukhrofi, Adams Patrick E, Schneider Andrea, Hagerman Randi J, Lozano Reymundo
Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA;
Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA; ; Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA;
Intractable Rare Dis Res. 2014 Nov;3(4):162-5. doi: 10.5582/irdr.2014.01023.
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.
脆性X智力低下1基因（FMR1）前突变所致的一种迟发性衰弱性疾病是神经退行性疾病脆性X相关震颤共济失调综合征（FXTAS）。我们报告了两名患有FXTAS的患者，他们有药物滥用史（阿片类药物、酒精和可卡因），这可能加剧了他们因FXTAS导致的快速神经功能恶化。关于药物滥用在FXTAS症状的发作、进展和严重程度方面的作用，尚无病例报告。然而，研究表明，药物滥用会对几种神经退行性疾病产生负面影响，我们认为在这些病例中，药物滥用导致了FXTAS更快的进展以及加重了白质疾病。
