title: Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases.
abstract: 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.
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA;
authors.forename: Zukhrofi
authors.initials: Z
authors.lastname: Muzar
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA; ; Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA;
authors.forename: Patrick E
authors.initials: PE
authors.lastname: Adams
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA; ; Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA;
authors.forename: Andrea
authors.initials: A
authors.lastname: Schneider
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA; ; Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA;
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA; ; Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA;
authors.forename: Reymundo
authors.initials: R
authors.lastname: Lozano
keywords: FXTAS; Substance abuse; neurological deterioration; opiates; premutation