Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.
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.
Watanabe
M
M
Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan. masa.wat@igaku.md.tsukuba.ac.jp
Yamamoto
N
N
Ohkoshi
N
N
Nagata
H
H
Kohno
Y
Y
Hayashi
A
A
Tamaoka
A
A
Shoji
S
S
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use*; D000328:Adult; D001706:Biopsy; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D018993:Myelin P0 Protein / Q000235:genetics*; D017354:Point Mutation; D013497:Sural Nerve / Q000473:pathology
D000305:Adrenal Cortex Hormones; D018993:Myelin P0 Protein