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Publication Detail

Title: Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins.

Authors: Paul, Ripon; Pessah, Isaac N; Gane, Louise; Ono, Michele; Hagerman, Paul J; Brunberg, James A; Tassone, Flora; Bourgeois, James A; Adams, Patrick E; Nguyen, Danh V; Hagerman, Randi

Published In Neurotoxicology, (2010 Aug)

Abstract: We present four cases of fragile X premutation carriers with early neurological symptoms, including symptoms consistent with multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS). Each patient had significant exposure to one or more environmental neurotoxicants that have documented neurotoxicity (i.e. hexachlorocyclopentadiene or C56, Agent Orange, and 2,4- or 2,6-toluene diisocyanate and dichlormate). We hypothesize that premutation carriers are a vulnerable group to neurotoxins because elevated mRNA in the premutation can lead to early cell death and brain disease, leading to neuropsychiatric and neurological symptoms consistent with FXTAS.

PubMed ID: 20466021 Exiting the NIEHS site

MeSH Terms: Adult; Age of Onset; Aged; Female; Fragile X Mental Retardation Protein/genetics*; Fragile X Syndrome/complications; Fragile X Syndrome/diagnosis; Fragile X Syndrome/genetics; Heterozygote*; Humans; Male; Middle Aged; Multiple Sclerosis/complications; Multiple Sclerosis/diagnosis; Multiple Sclerosis/genetics; Neurotoxicity Syndromes/complications; Neurotoxicity Syndromes/diagnosis; Neurotoxicity Syndromes/genetics*; Neurotoxins/toxicity*

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