NDLI: Vincristine exacerbates asymptomatic Charcot–Marie–Tooth disease with a novel EGR2 mutation

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Vincristine exacerbates asymptomatic Charcot–Marie–Tooth disease with a novel EGR2 mutation

Content Provider	Springer Nature Link
Author	Nakamura, Tomori Hashiguchi, Akihiro Suzuki, Shinsuke Uozumi, Kimiharu Tokunaga, Shoko Takashima, Hiroshi
Copyright Year	2012
Abstract	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.
Starting Page	77
Ending Page	82
Page Count	6
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	13
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-01-25
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Charcot–Marie–Tooth disease Early growth response 2 Vincristine-induced neuropathy DNA chip Molecular Medicine Neurosciences Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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