Literature DB >> 26802682

Phenobarbital use and neurological problems in FMR1 premutation carriers.

Wilmar Saldarriaga1, Pamela Lein2, Laura Yuriko González Teshima3, Carolina Isaza4, Lina Rosa5, Andrew Polyak6, Randi Hagerman7, Santhosh Girirajan6, Marisol Silva8, Flora Tassone9.   

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.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  FMR1; Fragile X; Neurotoxicity; Pesticides; Phenobarbital; Premutation

Mesh：

Substances：

Year:  2016        PMID： 26802682      PMCID： PMC4808401          DOI： 10.1016/j.neuro.2016.01.008

Source DB:  PubMed          Journal:  Neurotoxicology        ISSN： 0161-813X            Impact factor:   4.294


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