Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins.
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.
Paul
Ripon
R
MIND Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA.
Pessah
Isaac N
IN
Gane
Louise
L
Ono
Michele
M
Hagerman
Paul J
PJ
Brunberg
James A
JA
Tassone
Flora
F
Bourgeois
James A
JA
Adams
Patrick E
PE
Nguyen
Danh V
DV
Hagerman
Randi
R
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*
D051860:Fragile X Messenger Ribonucleoprotein 1; D009498:Neurotoxins; C497683:FMR1 protein, human
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