作者
Zukhrofi Muzar, Patrick E Adams, Andrea Schneider, Randi J Hagerman, Reymundo Lozano
发表日期
2014/11/30
期刊
Intractable & rare diseases research
卷号
3
期号
4
页码范围
162-165
出版商
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
简介
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.
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