PMID- 22271166
OWN - NLM
STAT- MEDLINE
DCOM- 20120522
LR  - 20211021
IS  - 1364-6753 (Electronic)
IS  - 1364-6745 (Linking)
VI  - 13
IP  - 1
DP  - 2012 Feb
TI  - Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel 
      EGR2 mutation.
PG  - 77-82
LID - 10.1007/s10048-012-0313-1 [doi]
AB  - Neurotoxicity is a common side effect of vincristine (VCR) treatment. Severe 
      exacerbations of neuropathy have been reported in patients with 
      Charcot-Marie-tooth disease (CMT) 1A with duplication of the peripheral myelin 
      protein 22 (PMP22) gene. However, whether or not VCR exacerbates neuropathies 
      through mutations in other CMT-associated genes besides PMP22 duplication has not 
      been well studied. The purpose of this study was to identify mutations in any 
      CMT-associated genes in a patient with hypersensitivity to VCR. We performed 
      clinical, electrophysiological, and genetic examinations of a 23-year-old woman, 
      who was hypersensitive to low-dose VCR, and her healthy mother. DNA analysis was 
      performed using our specially designed resequencing array that simultaneously 
      screens for 28 CMT-associated genes. Electrophysiological studies revealed that 
      the patient and her healthy mother had demyelinating polyneuropathy. Furthermore, 
      they showed the same novel mutation in the early growth response 2 (EGR2) gene. 
      Recognizing pre-existing asymptomatic CMT by electrophysiological studies and 
      genetic analysis before VCR treatment allowed us to prevent severe VCR-induced 
      neuropathy.
FAU - Nakamura, Tomonori
AU  - Nakamura T
AD  - Department of Neurology and Geriatrics, Kagoshima University Graduate School of 
      Medical and Dental Sciences, Sakuragaoka 8-35-1, Kagoshima City, Kagoshima, 
      890-8520, Japan.
FAU - Hashiguchi, Akihiro
AU  - Hashiguchi A
FAU - Suzuki, Shinsuke
AU  - Suzuki S
FAU - Uozumi, Kimiharu
AU  - Uozumi K
FAU - Tokunaga, Shoko
AU  - Tokunaga S
FAU - Takashima, Hiroshi
AU  - Takashima H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120125
PL  - United States
TA  - Neurogenetics
JT  - Neurogenetics
JID - 9709714
RN  - 0 (Antineoplastic Agents, Phytogenic)
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
RN  - 5J49Q6B70F (Vincristine)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Antineoplastic Agents, Phytogenic/adverse effects
MH  - Charcot-Marie-Tooth Disease/*genetics/*pathology/*physiopathology
MH  - DNA Mutational Analysis
MH  - Early Growth Response Protein 2/*genetics
MH  - Female
MH  - Hereditary Sensory and Motor Neuropathy/*chemically induced
MH  - Humans
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Neural Conduction/drug effects/physiology
MH  - Sequence Alignment
MH  - Vincristine/*adverse effects
MH  - Young Adult
EDAT- 2012/01/25 06:00
MHDA- 2012/05/23 06:00
CRDT- 2012/01/25 06:00
PHST- 2011/11/01 00:00 [received]
PHST- 2012/01/09 00:00 [accepted]
PHST- 2012/01/25 06:00 [entrez]
PHST- 2012/01/25 06:00 [pubmed]
PHST- 2012/05/23 06:00 [medline]
AID - 10.1007/s10048-012-0313-1 [doi]
PST - ppublish
SO  - Neurogenetics. 2012 Feb;13(1):77-82. doi: 10.1007/s10048-012-0313-1. Epub 2012 
      Jan 25.