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

Neuromuscular Disorders

Volumn 16, Issue 5, 2006, Pages 308-310

  Burns, Ted M ^a   Phillips II, Lawrence H ^a   Dimberg, Elliot L ^a   Vaught, Barry K ^a   Klein, Christopher J ^b  

^a UNIVERSITY OF VIRGINIA   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Charcot Marie Tooth disease; Hereditary motor and sensory neuropathy; MPZ mutation

Indexed keywords

IMMUNOGLOBULIN; MYELIN PROTEIN;

ADULT; ARTICLE; CASE REPORT; ELECTROMYOGRAM; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; MALE; NERVE CONDUCTION; POLYNEUROPATHY; POLYRADICULONEUROPATHY; PREDICTION; PRIORITY JOURNAL; SENSORY DYSFUNCTION;

ACUTE DISEASE; AMINO ACID SUBSTITUTION; ARGININE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MYELIN P0 PROTEIN; NEURALGIA; PERIPHERAL NERVES; PERIPHERAL NERVOUS SYSTEM DISEASES; POINT MUTATION; POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING; TIME FACTORS; TRYPTOPHAN;

EID: 33646470002     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.02.005     Document Type: Article

References (10)

1. Shy M.E. Hereditary motor and sensory neuropathies related to MPZ (P0) mutations. In: Dyck P.J., and Thomas P.K. (Eds). Peripheral neuropathy. 4th ed (2005), Saunders, Philadelphia 1681-1706
2. Szabo A., Züchner S., Siska E., Mechler F., and Molnar M.J. Marked phenotypic variation in a family with a new myelin protein zero mutation. Neuromuscul Disord 15 (2005) 760-763
3. Shapiro L., Doyle J.P., Hensley P., Colman D.R., and Hendrickson W.A. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 17 (1996) 435-439
4. Dyck P.J., Oviatt K.F., and Lambert E.H. Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol 10 (1981) 222-226
5. De Jonghe P., Timmerman V., Ceuterick C., et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-tooth phenotype. Brain 122 (1999) 281-290
6. Shy M.E., Jáni A., Krajewski K., et al. Phenotypic clustering in MPZ mutations. Brain 127 (2004) 371-384
7. Donaghy M., Sisodiya S.M., Kennett R., et al. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. J Neurol Neurosurg Psych 69 (2000) 799-805
8. Watanabe M., Yamamotor N., Ohkoshi N., et al. Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation. Neurology 59 (2002) 767-769
9. Shy M.E., Arroyo E., Sladky J., et al. Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). J Neuropathol Exp Neurol 56 (1997) 811-821
10. Schmid C.D., Stienekemeier M., Oehen S., et al. Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance. J Neurosci 20 (2000) 729-735