Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis.
BACKGROUND
Multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS) have overlapping clinical signs and symptoms.


OBJECTIVE
To present a case with evidence of both MS and FXTAS and to discuss the relationship of both disorders.


METHODS
Case report.


METHODS
Fragile X Research and Treatment Center at the University of California, Davis, Medical Center. Patient Woman with the FMR1 premutation who died of MS at the age of 52 years.


METHODS
Magnetic resonance imaging, physical examination, and neuropathologic examination results.


RESULTS
Magnetic resonance imaging, physical examination, and autopsy neuropathologic examination revealed diagnostic features of MS and FXTAS.


CONCLUSIONS
The molecular mechanism of RNA toxicity, including the elevation of alphaB-crystallin levels observed in FXTAS, may lead to enhanced predisposition to autoimmune diseases.
Greco
Claudia M
CM
Department of Pathology, University of California, Davis, Health System, Sacramento, CA 95817, USA.
Tassone
Flora
F
Garcia-Arocena
Dolores
D
Tartaglia
Nicole
N
Coffey
Sarah M
SM
Vartanian
Timothy K
TK
Brunberg
James A
JA
Hagerman
Paul J
PJ
Hagerman
Randi J
RJ
D000328:Adult; D017809:Fatal Outcome; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human