PMID- 24239057
OWN - NLM
STAT- MEDLINE
DCOM- 20140910
LR  - 20140115
IS  - 1873-2364 (Electronic)
IS  - 0960-8966 (Linking)
VI  - 24
IP  - 1
DP  - 2014 Jan
TI  - Clinical, electrophysiological and magnetic resonance findings in a family with 
      hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 
      mutation.
PG  - 56-62
LID - S0960-8966(13)00957-7 [pii]
LID - 10.1016/j.nmd.2013.09.005 [doi]
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder 
      mainly caused by a 1.5-Mb deletion at 17p11.2-12 (and in some rare cases by point 
      mutations) and clinically associated with recurrent painless palsies. Here, we 
      performed electrophysiological (motor, sensory and terminal latency index), MRI 
      and genetic studies in a family referred for ulnar neuropathy with pain. 
      Surprisingly, we found typical neurophysiological features of HNPP (prolongation 
      of distal motor latencies and diffuse SNCV slowing with significant slowing of 
      motor nerve conduction velocities). Besides, the proband presented conduction 
      block in left ulnar, left median and both peroneal nerves. MRI findings were 
      consistent with an underlying neuropathy. Molecular studies identified a novel 
      frameshift mutation in PMP22 confirming the diagnosis of HNPP. Our data suggest 
      that neurophysiological studies are essential to characterize underdiagnosed HNPP 
      patients referred for peripheral neuropathy. Our experience shows that MRI could 
      be a complementary tool for the diagnosis of these patients.
CI  - Copyright (c) 2013 Elsevier B.V. All rights reserved.
FAU - Yurrebaso, Izaskun
AU  - Yurrebaso I
AD  - Department of Clinical Neurophysiology, Hospital Universitario Cruces, Barakaldo, 
      Bizkaia, Spain.
FAU - Casado, Oscar L
AU  - Casado OL
AD  - Osatek Alta Tecnologia Sanitaria S.A., Galdakao, Bizkaia, Spain.
FAU - Barcena, Joseba
AU  - Barcena J
AD  - Department of Neurology, Hospital Universitario Cruces, Barakaldo, Bizkaia, 
      Spain.
FAU - Perez de Nanclares, Guiomar
AU  - Perez de Nanclares G
AD  - Molecular (Epi)Genetic Laboratory, Research Unit, Hospital Universitario 
      Araba-Txagorritxu, BioAraba, Vitoria-Gasteiz, Spain.
FAU - Aguirre, Urko
AU  - Aguirre U
AD  - Research Unit, REDISSEC: Health Services Research on Chronic Patients Network, 
      Hospital Galdakao-Usansolo, Galdakao, Bizkaia, Spain. Electronic address: 
      urko.aguirrelarracoechea@osakidetza.net.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130913
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - Tomaculous neuropathy
SB  - IM
MH  - Adult
MH  - Arthrogryposis/*diagnosis/genetics
MH  - Electrodiagnosis
MH  - Frameshift Mutation
MH  - Hereditary Sensory and Motor Neuropathy/*diagnosis/genetics
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mutation
MH  - Myelin Proteins/*genetics
OTO - NOTNLM
OT  - Hereditary neuropathy with liability to pressure palsies
OT  - MRI
OT  - No recurrent palsies with pain
OT  - Novel mutation
OT  - PMP22
EDAT- 2013/11/19 06:00
MHDA- 2014/09/11 06:00
CRDT- 2013/11/19 06:00
PHST- 2013/04/04 00:00 [received]
PHST- 2013/07/20 00:00 [revised]
PHST- 2013/09/05 00:00 [accepted]
PHST- 2013/11/19 06:00 [entrez]
PHST- 2013/11/19 06:00 [pubmed]
PHST- 2014/09/11 06:00 [medline]
AID - S0960-8966(13)00957-7 [pii]
AID - 10.1016/j.nmd.2013.09.005 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2014 Jan;24(1):56-62. doi: 10.1016/j.nmd.2013.09.005. Epub 
      2013 Sep 13.