Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy

Ted M Burns; Lawrence H Phillips 2nd; Elliot L Dimberg; Barry K Vaught; Christopher J Klein

doi:10.1016/j.nmd.2006.02.005

Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy

Neuromuscul Disord. 2006 May;16(5):308-10. doi: 10.1016/j.nmd.2006.02.005. Epub 2006 Apr 17.

Authors

Ted M Burns¹, Lawrence H Phillips 2nd, Elliot L Dimberg, Barry K Vaught, Christopher J Klein

Affiliation

¹ Department of Neurology, University of Virginia, Hospital Drive, McKim Hall, P.O. Box 800394, Charlottesville, VA 22908, USA. tmb8r@virginia.edu

PMID: 16616847
DOI: 10.1016/j.nmd.2006.02.005

Abstract

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.

Publication types

Case Reports

MeSH terms

Acute Disease
Amino Acid Substitution / genetics
Arginine / genetics
DNA Mutational Analysis
Disease Progression
Genetic Predisposition to Disease / genetics*
Genetic Testing
Hereditary Sensory and Motor Neuropathy / diagnosis
Hereditary Sensory and Motor Neuropathy / genetics*
Hereditary Sensory and Motor Neuropathy / physiopathology
Humans
Inheritance Patterns
Male
Middle Aged
Myelin P0 Protein / genetics*
Neuralgia / diagnosis
Neuralgia / genetics*
Neuralgia / physiopathology*
Peripheral Nerves / metabolism
Peripheral Nerves / pathology
Peripheral Nerves / physiopathology*
Peripheral Nervous System Diseases / diagnosis
Peripheral Nervous System Diseases / genetics*
Peripheral Nervous System Diseases / physiopathology
Point Mutation / genetics*
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / diagnosis
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / genetics
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / physiopathology
Time Factors
Tryptophan / genetics

Substances

Myelin P0 Protein
Tryptophan
Arginine