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
N1 - Funding Information:
This research was supported by the United States National Institute of Child Health and Human Development (grants R01 HD036071 and U54 HD079125), the MIND Institute, United States National Institute of Environmental Health (grant P01 ES011269), the United States Environmental Protection Agency (grant R83543201) and Universidad del Valle (grant 1771). The contents of this work are solely the responsibility of the grantee and do not necessarily represent the official views of the USEPA or NIEHS. Further, the USEPA and NIEHS do not endorse the purchase of any commercial products or services mentioned in the publication.
Funding Information:
This research was supported by the United States National Institute of Child Health and Human Development (grants R01 HD036071 and U54 HD079125 ), the MIND Institute, United States National Institute of Environmental Health (grant P01 ES011269 ), the United States Environmental Protection Agency (grant R83543201 ) and Universidad del Valle (grant 1771 ). The contents of this work are solely the responsibility of the grantee and do not necessarily represent the official views of the USEPA or NIEHS. Further, the USEPA and NIEHS do not endorse the purchase of any commercial products or services mentioned in the publication.
Publisher Copyright:
© 2016 Elsevier Inc.
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.
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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 -