title: Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins.
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.
authors.affiliation: MIND Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA.
authors.forename: Ripon
authors.initials: R
authors.lastname: Paul
authors.forename: Isaac N
authors.initials: IN
authors.lastname: Pessah
authors.forename: Louise
authors.initials: L
authors.lastname: Gane
authors.forename: Michele
authors.initials: M
authors.lastname: Ono
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Hagerman
authors.forename: James A
authors.initials: JA
authors.lastname: Brunberg
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: James A
authors.initials: JA
authors.lastname: Bourgeois
authors.forename: Patrick E
authors.initials: PE
authors.lastname: Adams
authors.forename: Danh V
authors.initials: DV
authors.lastname: Nguyen
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D020258:Neurotoxicity Syndromes / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009498:Neurotoxins / Q000633:toxicity*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009498:Neurotoxins; C497683:FMR1 protein, human
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