Neurology. 2002 Sep 10;59(5):767-9.

Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.

Watanabe M, Yamamoto N, Ohkoshi N, Nagata H, Kohno Y, Hayashi A, Tamaoka A, Shoji S.

Source

Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan. masa.wat@igaku.md.tsukuba.ac.jp

Abstract

A patient with hereditary neuropathy presented with asymmetric distal weakness. On nerve biopsy, there was demyelination and onion-bulb formation, and molecular analysis revealed that the patient was heterozygous for an MPZ mutation. The patient improved with corticosteroid treatment.

PMID:: 12221176; [PubMed - indexed for MEDLINE]

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Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. [Neurogenetics. 2003]
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, et al. Neurogenetics. 2003 Aug; 4(4):191-7. Epub 2003 Jul 5.
Expression of P0 protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III. [J Neurol Sci. 1994]
Expression of P0 protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III.
Tachi N, Kasai K, Chiba S, Naganuma M, Uyemura K, Hayasaka K. J Neurol Sci. 1994 Jun; 124(1):67-70.
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Phillips JP, Warner LE, Lupski JR, Garg BP. Pediatr Neurol. 1999 Mar; 20(3):226-32.
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Review Phenotypic clustering in MPZ mutations.
Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, et al. Brain. 2004 Feb; 127(Pt 2):371-84. Epub 2004 Jan 7.

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