title: Phenobarbital use and neurological problems in FMR1 premutation carriers.
abstract: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats). Premutation carriers have elevated FMR1 mRNA expression levels, which have been associated with neurotoxicity potentially causing neurodevelopmental problems or neurological problems associated with aging. However, cognitive impairments or neurological problems may also be related to increased vulnerability of premutation carriers to neurotoxicants, including phenobarbital. Here we present a study of three sisters with the premutation who were exposed differentially to phenobarbital therapy throughout their lives, allowing us to compare the neurological effects of this drug in these patients.
authors.affiliation: Research Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS),Universidad del Valle, Cali, Colombia; Departments of Morphology and Obstetrics & Gynecology, Universidad del Valle, Hospital Universitario Del Valle, Cali, Colombia. Electronic address: wilmar.saldarriaga@correounivallle.edu.co.
authors.forename: Wilmar
authors.initials: W
authors.lastname: Saldarriaga
authors.affiliation: Department of Molecular Biosciences, University of California, Davis School of Veterinary Medicine, Davis, CA, USA; MIND Institute, University of California, Davis School of Medicine, Sacramento, CA, USA.
authors.forename: Pamela
authors.initials: P
authors.lastname: Lein
authors.affiliation: Medicine and Surgery School, Universidad del Valle, Cali, Colombia.
authors.forename: Laura Yuriko
authors.initials: LY
authors.lastname: González Teshima
authors.affiliation: Department of Morphology, Universidad del Valle, Cali, Colombia.
authors.forename: Carolina
authors.initials: C
authors.lastname: Isaza
authors.affiliation: La Misericordia International Clinic, Barranquilla, Colombia; Instituto Superior de Estudios Psicológicos, Barcelona, Spain; Autonomous University of Barcelona-Sant Joan de Déu Hospital, Barcelona, Spain.
authors.forename: Lina
authors.initials: L
authors.lastname: Rosa
authors.affiliation: Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
authors.forename: Andrew
authors.initials: A
authors.lastname: Polyak
authors.affiliation: Department of Pediatrics and the MIND Institute, University of California, Davis Medical Center, Sacramento, CA, USA.
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
authors.affiliation: Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
authors.forename: Santhosh
authors.initials: S
authors.lastname: Girirajan
authors.affiliation: Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, CA, USA.
authors.forename: Marisol
authors.initials: M
authors.lastname: Silva
authors.affiliation: MIND Institute, University of California, Davis School of Medicine, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, CA, USA.
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
mesh_terms: D003072:Cognition Disorders / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D004252:DNA Mutational Analysis; D018691:Excitatory Amino Acid Antagonists / Q000627:therapeutic use*; D005192:Family Health; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009422:Nervous System Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D010634:Phenobarbital / Q000627:therapeutic use; D012333:RNA, Messenger / Q000378:metabolism; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D018691:Excitatory Amino Acid Antagonists; D051860:Fragile X Messenger Ribonucleoprotein 1; D010634:Phenobarbital; D012333:RNA, Messenger; C497683:FMR1 protein, human
keywords: FMR1; Fragile X; Neurotoxicity; Pesticides; Phenobarbital; Premutation