title: Methadone use in a male with the FMRI premutation and FXTAS.
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.
authors.affiliation: 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.
authors.forename: Zukhrofi
authors.initials: Z
authors.lastname: Muzar
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.|Department of Pediatrics, UC Davis Medical Center, Sacramento, California.
authors.forename: Reymundo
authors.initials: R
authors.lastname: Lozano
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.|Department of Pediatrics, UC Davis Medical Center, Sacramento, California.
authors.forename: Andrea
authors.initials: A
authors.lastname: Schneider
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.|Department of Pediatrics, UC Davis Medical Center, Sacramento, California.
authors.forename: Patrick E
authors.initials: PE
authors.lastname: Adams
authors.affiliation: Center for Biomedical Research, Faculty of Medicine Diponegoro University Semarang, Central Java, Indonesia.
authors.forename: Sultana M H
authors.initials: SM
authors.lastname: Faradz
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.|Department of Biochemistry and Molecular Medicine, School of Medicine, University of California at Davis, Davis, Califonia.
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.|Department of Pediatrics, UC Davis Medical Center, Sacramento, California.
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D001259:Ataxia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D015870:Gene Expression; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008691:Methadone / Q000008:administration & dosage*; D008875:Middle Aged; D009154:Mutation; D009294:Narcotics / Q000008:administration & dosage*; D019966:Substance-Related Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014202:Tremor / Q000150:complications / Q000235:genetics* / Q000473:pathology; D066127:White Matter / Q000187:drug effects* / Q000378:metabolism / Q000473:pathology
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D008691:Methadone; D009294:Narcotics; C497683:FMR1 protein, human
keywords: FMR1 gene; FXTAS; methadone; narcotics; premutation; white matter