Phenobarbital use and neurological problems in FMR1 premutation carriers

Wilmar Saldarriaga; Pamela Lein; Laura Yuriko González Teshima; Carolina Isaza; Lina Rosa; Andrew Polyak; Randi Hagerman; Santhosh Girirajan; Marisol Silva; Flora Tassone

doi:10.1016/j.neuro.2016.01.008

Phenobarbital use and neurological problems in FMR1 premutation carriers

Wilmar Saldarriaga, Pamela Lein, Laura Yuriko González Teshima, Carolina Isaza, Lina Rosa, Andrew Polyak, Randi Hagerman, Santhosh Girirajan, Marisol Silva, Flora Tassone

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

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.

Original language	English (US)
Pages (from-to)	141-147
Number of pages	7
Journal	NeuroToxicology
Volume	53
DOIs	https://doi.org/10.1016/j.neuro.2016.01.008
State	Published - Mar 1 2016

All Science Journal Classification (ASJC) codes

General Neuroscience
Toxicology

Access to Document

10.1016/j.neuro.2016.01.008

Cite this

@article{7145f3b526ed4ea2b19fa3a74d8fdcbf,

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.",

author = "Wilmar Saldarriaga and Pamela Lein and {Gonz{\'a}lez Teshima}, {Laura Yuriko} and Carolina Isaza and Lina Rosa and Andrew Polyak and Randi Hagerman and Santhosh Girirajan and Marisol Silva and Flora Tassone",

note = "Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",

year = "2016",

month = mar,

day = "1",

doi = "10.1016/j.neuro.2016.01.008",

language = "English (US)",

volume = "53",

pages = "141--147",

journal = "NeuroToxicology",

issn = "0161-813X",

publisher = "Elsevier",

}

TY - JOUR

T1 - Phenobarbital use and neurological problems in FMR1 premutation carriers

AU - Saldarriaga, Wilmar

AU - Lein, Pamela

AU - González Teshima, Laura Yuriko

AU - Isaza, Carolina

AU - Rosa, Lina

AU - Polyak, Andrew

AU - Hagerman, Randi

AU - Girirajan, Santhosh

AU - Silva, Marisol

AU - Tassone, Flora

PY - 2016/3/1

Y1 - 2016/3/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84955588792&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84955588792&partnerID=8YFLogxK

U2 - 10.1016/j.neuro.2016.01.008

DO - 10.1016/j.neuro.2016.01.008

M3 - Article

C2 - 26802682

AN - SCOPUS:84955588792

SN - 0161-813X

VL - 53

SP - 141

EP - 147

JO - NeuroToxicology

JF - NeuroToxicology

ER -

Phenobarbital use and neurological problems in FMR1 premutation carriers

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this