View : 9 Download: 0

Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH

Title
Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH
Authors
Nam D.E.Jung S.-C.Yoo D.H.Choi S.S.Seo S.-Y.Kim G.H.Kim S.J.Nam S.H.Choi B.-O.Chung K.W.
Ewha Authors
정성철
SCOPUS Author ID
정성철scopus
Issue Date
2017
Journal Title
Journal of the Peripheral Nervous System
ISSN
1085-9489JCR Link
Citation
vol. 22, no. 3, pp. 200 - 207
Keywords
CMT2CCcryptic amyloidogenic element (CAE)frameshift mutationNEFH
Publisher
Blackwell Publishing Inc.
Indexed
SCIE; SCOPUS WOS scopus
Abstract
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3′ untranslated region (UTR). This study also identified a de novo c.3015_3027dup frameshift mutation predicting p.Lys1010Glnfs*57 in NEFH from a CMT2 family with an atypical clinical symptom of prominent proximal weakness. This mutation is located near the previously reported frameshift mutations, suggesting a mutational hotspot. Lower limb magnetic resonance imaging (MRI) revealed marked hyperintense signal changes in the thigh muscles compared with those in the calf muscles. Therefore, this study suggests that the stop loss and translational elongations by the 3′ UTR of the NEFH mutations may be a relatively frequent genetic cause of axonal peripheral neuropathy with the specific characteristics of proximal dominant weakness. © 2017 Peripheral Nerve Society
DOI
10.1111/jns.12223
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE