Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.
We present a patient with acute onset painful polyneuropathy found to have a novel MPZ mutation (Arg36Trp). The Arg36Trp mutation described in this report occurs at a putative adhesion interface. An alternative explanation for his polyneuropathy was not found and his mother was identified to have polyneuropathy and carry the same mutation. Two hundred normal controls were without this base alteration. The temporal profile of the index case may provide further indirect evidence suggesting an immune mechanism contributing to the pathogenesis of some cases of MPZ mutations. We predict that other rapid symptom onset polyneuropathies will be found to have direct genetic susceptibility.
Burns
Ted M
TM
Department of Neurology, University of Virginia, Hospital Drive, McKim Hall, P.O. Box 800394, Charlottesville, VA 22908, USA. tmb8r@virginia.edu
Phillips
Lawrence H
LH
Dimberg
Elliot L
EL
Vaught
Barry K
BK
Klein
Christopher J
CJ
D000208:Acute Disease; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000235:genetics*; D009437:Neuralgia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D013997:Time Factors; D014364:Tryptophan / Q000235:genetics
D018993:Myelin P0 Protein; D014364:Tryptophan; D001120:Arginine